Pediatric

Hand Surgery
Giorgio Pajardi
Editor

123
Pediatric Hand Surgery
Giorgio Pajardi
Editor

Pediatric Hand Surgery

Editor
Giorgio Pajardi
Department of Hand Surgery and Rehabilitation
S. Giuseppe MultiMedica Hospital, Milan University
Milano, Italy

ISBN 978-3-031-30983-0    ISBN 978-3-031-30984-7 (eBook)

[Link]

© Springer Nature Switzerland AG 2023

This work is subject to copyright. All rights are reserved by the Publisher, whether the whole or
part of the material is concerned, specifically the rights of translation, reprinting, reuse of
illustrations, recitation, broadcasting, reproduction on microfilms or in any other physical way,
and transmission or information storage and retrieval, electronic adaptation, computer software,
or by similar or dissimilar methodology now known or hereafter developed.
The use of general descriptive names, registered names, trademarks, service marks, etc. in this
publication does not imply, even in the absence of a specific statement, that such names are
exempt from the relevant protective laws and regulations and therefore free for general use.
The publisher, the authors, and the editors are safe to assume that the advice and information in
this book are believed to be true and accurate at the date of publication. Neither the publisher nor
the authors or the editors give a warranty, expressed or implied, with respect to the material
contained herein or for any errors or omissions that may have been made. The publisher remains
neutral with regard to jurisdictional claims in published maps and institutional affiliations.

This Springer imprint is published by the registered company Springer Nature Switzerland AG
The registered company address is: Gewerbestrasse 11, 6330 Cham, Switzerland
To my grandchildren Beatrice, Tommaso and Alice,
who carry our projects and our dreams into their future.
Preface

When 8 years ago Elisa Geranio from Springer suggested that I should write
this book, I asked her to have a few days of meditation before answering. I
love challenges and I love overcoming them even more, but I imagined that
selecting and coordinating so many colleagues on such a niche topic would
have been a truly demanding undertaking right from the start. So it was, but I
am happy to have accepted the proposal and I hope the readers of these pages
are as well.
The theme is fascinating and always current. Congenital malformations of
the hand can hardly be caged in rigid classifications and certainly do not
respond to preordained reconstructive schemes.
Scientific rigour, experience and dexterity of the surgeon are useless if
they are not spiced up with imagination, which allows us to project what we
are building today into the dimension of growth, thinking of the dexterity of
what will be a child and then a young adult.
A heartfelt thanks to all my Friends—who I hope will remain so in the
future, despite my harassment - who have responded to my appeal by giving
us the precious gift of their experience.
Thanks to my team, who contributed in every way to complete the work,
transfusing years of coaching in my paediatric clinics and operating rooms.
They are my future because unlike the other branches of hand surgery, the
paediatric field requires at least fifteen years of experience to see the result in
the young adult of what was decided during the first visit a few days after
birth.
Special thanks to Chiara Novelli, who was able to support and solicit
Colleagues from all over the world, avoiding that the effort and at times the
disappointment for some delay could let them run out of enthusiasm. Thanks
to the Publisher for the honour reserved for me and my country, offering me
this unique and unrepeatable experience.
Last but not least, thanks to my wife and daughters who have always sus-
tained and supported me actively in my human and professional choice,
which is difficult and certainly not commercial, supporting the families with
the “Associazione la Mano del Bambino” and during the tiring process of
care, with a special dedication to my daughter Martina who has tenaciously
chosen to follow me in the most rewarding profession that exists.

Milano, Italy Giorgio Pajardi

vii
Contents

1 
The Congenital Hand: Psychological Aspects ������������������������������   1
Daniela Pajardi and Alessandra Viano
2 
Babies Hand Imaging and X-ray���������������������������������������������������� 11
Gaetana A. Rispoli and Maurizio Zompatori
3 Hand Defects: An Isolated Anomaly Or a
Syndromic Disease? ������������������������������������������������������������������������ 29
Angelo Selicorni, Paola Cianci, Silvia Tajè,
and Massimo Agosti
4 Paediatric Trigger Finger���������������������������������������������������������������� 43
Chiara Novelli and Giorgio Pajardi
5 Camptodactyly �������������������������������������������������������������������������������� 49
Chiara Parolo, Elisa Rosanda, and Giorgio Pajardi
6 Syndactyly���������������������������������������������������������������������������������������� 59
Daniel M. Weber
7 Symbrachydactyly���������������������������������������������������������������������������� 73
Elisa Rosanda, Chiara Parolo, and Giorgio Pajardi
8 Central Synpolydactyly ������������������������������������������������������������������ 87
Andrea Jester, Tatiana Y. Jacomel, Michail Vourvachis,
and Jeannette W. C. Ting
9 Thumb Polydactyly�������������������������������������������������������������������������� 101
Christianne van Nieuwenhoven and Steven Hovius
10 Ulnar Polydactyly���������������������������������������������������������������������������� 113
Scott N. Oishi and Terri Beckwith
11 
Cleft Hand or Split Hand Foot Malformation������������������������������ 123
Stéfane Guéro
12 
Brachydactyly Types D and E�������������������������������������������������������� 139
Zavarukhin V. Ivanovich
13 
Surgical Management of the Blauth 1 to 3A
Thumb Hypoplasia�������������������������������������������������������������������������� 153
Stéphane Guéro

ix
x Contents

14 Thumb
 Hypoplasia: Genesia, Pollicization������������������������������������ 167
Giorgio Pajardi, Elisa Rosanda, and Chiara Parolo
15 Radial
 Longitudinal Deficiency: Classification
and Surgical Technique ������������������������������������������������������������������ 175
Steven E. R. Hovius, Martijn Baas,
and Christianne A. van Nieuwenhoven
16 Progressive
 Bone Distraction Lengthening in the Treatment
of Congenital Malformations of the Upper Limb ������������������������ 189
Mario Paracuollo, Chiara Novelli, Giulietta Proserpio,
Keit Young, and Giorgio Pajardi
17 Radial
 Club Hand: Microvascular Reconstruction���������������������� 203
Simo K. Vilkki
18 Metacarpal Synostosis �������������������������������������������������������������������� 219
Anna M. Acosta and Terry R. Light
19 Epidermolysis Bullosa �������������������������������������������������������������������� 235
Chiara Novelli, Chirara Parolo, Veronica Fasoli,
and Giorgio Pajardi
20 Arthrogryposis:
 Introduction and Classification�������������������������� 245
Olga Agranovich
21 Thumb in Arthrogryposis���������������������������������������������������������������� 251
Chiara Novelli, Giulietta Proserpio, and Giorgio Pajardi
22 Vascular Malformations������������������������������������������������������������������ 255
Luciana Marzella and Piero di Giuseppe
23 Macrodactilies���������������������������������������������������������������������������������� 269
Scott N. Oishi, Marybeth Ezaki, Terri Beckwith,
and Arena Sayavong
24 Palliative
 Surgery in Obstetrical Brachial Plexus Palsy�������������� 283
Filippo M. Senes, Nunzio Catena, and Chiara Arrigoni
25 Nerve Injuries���������������������������������������������������������������������������������� 301
Filippo M. Senes, Nunzio Catena, Luigi A. Nasto,
and Chiara Arrigoni
26 Flexor
 Tendon Lesions in Children: Diagnosis,
Treatment, and Early Active Motion Rehabilitation�������������������� 309
Chiara Parolo, Greta Culicchia, Rossella Pagliaro,
and Giorgio Pajardi
27 Pediatric Hand Fractures���������������������������������������������������������������� 315
Filippo M. Senes, Luigi A. Nasto, Nunzio Catena,
and Chiara Arrigoni
28 Replantation ������������������������������������������������������������������������������������ 329
Mona I. Winge and Magne Røkkum
Contents xi

29 Hand Transplantation in Children ������������������������������������������������ 353

Shaun D. Mendenhall, Todd J. Levy,
Sandra Amaral, Benjamin Chang, and L. Scott Levin
30 
Rehabilitation in Pediatric Hand Trauma ������������������������������������ 367
Rossella Pagliaro, Luigi Bartolomeo, Silvia Minoia,
and Elena Marta Mancon
31 Toe-to-Hand Transfers for Posttraumatic and
Congenital Reconstruction in Children:
Indications and Surgical Technique ���������������������������������������������� 377
Neil Jones and Chiara Parolo
32 Compartment Syndromes (CS) and Volkmann’s
and Upper Limb Vascular Pathology in the
Peri- and Neonatal Period �������������������������������������������������������������� 391
Antonio Landi, Giuesppe Caserta, Andrea Giorgini,
Silvana Sartini, and Scott Oishi
33 
Postoperative Dressings and Care�������������������������������������������������� 415
Ellen Kroin and Terry R. Light
34 
Rehabilitation in Congenital Hand and Forearm Defects:
Rehabilitation of the Child’s Hand—General Aspects���������������� 423
Elena M. Mancon, Luigi Bartolomeo, Elisa Ceccarelli,
Sara Cesaroni, Claudia Corsi, Greta Culicchia, Ambra Gelatti,
Roberta Genova, Antonella Guerriero, Sara Longhi,
Claudia Maiolino, Carmen Meloni, Silvia Minoia,
Marta Nobilia, Rossella Pagliaro, Stefania Paparo,
Valeria L. Petrillo, Michela Ramella, Federica Suriano,
Patrizia Rossi, Francesca Tolosa, and Simona Vecchi
35 
Association to Support Babies and Families��������������������������������� 475
Amy Lake, Martina Pajardi, and Elena M. Mancon
Index���������������������������������������������������������������������������������������������������������� 481
 The Congenital Hand:
Psychological Aspects
1
Daniela Pajardi and Alessandra Viano

Abstract Keywords

The hand is fundamental to human psycho-­ Hand congenital malformation · Hand

sensorial development and becomes a means disfigurement · Multiprofessional approach ·
and a symbol of autonomy because it can Decision making · Parenting stress
reach every area of the body. Furthermore,
hands play a central role in social and emo-
tional relationships because they express emo- The functionality and visibility of the hand make
tionality, they are protagonists in nonverbal this body part full of emotional meaning. The
communication, and they are also constantly team that deals with conditions and pathological
visible to others as well as to their owner. conditions involving the hand needs to face the
The relationship between patient and health psychological aspects raised by such an impor-
specialists grows and is shaped in this diffi- tant part of the body.
cult, emotionally intense context. Health per- The hand is fundamental in human psycho-­
sonnel face a problem that requires joint and sensorial development and becomes a means and
coordinated intervention from various profes- a symbol of autonomy as it can reach every part
sionals: surgeons, physiotherapists, and psy- of the body. When people lose the possibility of
chologists. Especially when the patient is a carrying out these actions on their own, they
child there is a complex interaction between markedly lose independence. Furthermore, it is
health workers, children, and their family sys- important to remember that hands play a central
tem. The psychological and emotional aspects role in social and emotional relationships because
can have an impact in terms of compliance they express emotionality: we caress with the
with the therapeutic plan, relationships, and hand. The hand is the protagonist in nonverbal
quality of life. communication, but is also constantly visible to
others as well as to its owner.
When a person is faced with traumatic or mal-
D. Pajardi formity problems, this latter aspect is important
Department of Humanities, University of Urbino, from a motivational point of view: the subject
Urbino, Italy
cannot avoid confronting his/her own difficulties
e-mail: [Link]@[Link]
and reactions raised in the social context.
A. Viano (*)
Therefore, visibility is an element that sustains
Department of Hand Surgery and Rehabilitation,
San Giuseppe Hospital IRCCS MultiMedica, and pushes toward the need to elaborate and
Milan University, Milan, Italy accept one’s own condition or the condition of

© Springer Nature Switzerland AG 2023 1

G. Pajardi (ed.), Pediatric Hand Surgery, [Link]
2 D. Pajardi and A. Viano

their child for the parents of a child with congeni-

neonatology clinic where the child is born than if
tal pathological hand conditions. they consult specialized centers.
Whether originating from malformation or This difficulty, although bypassed by the pos-
traumatic injury, pathological conditions of the sibility of checking the internet, highlights the
upper limb affect and modify many areas of indi- low mediatic resonance that involves ordinary
vidual life and requires significant psychological people as well as health professionals.
effort to accept and adapt. On the other hand, usually because of the
The relationship between patient and health presence of many different problems affecting
specialists grows and is shaped in this difficult the newborn, which can sometimes even affect
context. Especially when the patient is a child body parts that are essential for survival, clini-
there is a complex interaction among health cians have great expectation for a solution to con-
workers, children, and their family system. genital problems.
Health personnel face a problem that requires
a joint and coordinated intervention by various
1.1 Psychological Aspects professionals: surgeons, physiotherapists, and
psychologists.
Compared with other congenital problems with The parent notes that there are different criti-
greater resonance and in-depth knowledge, the cal issues that will involve their child. Hypotheses
congenital hand anomaly is less well known. In and expectations are formulated considering the
those pathological conditions such as labio-­ current problem, the future, and possible solu-
palatoschisis or Down’s syndrome congenital tions at the same time.
upper limb anomalies can easily be seen. It becomes important that parents understand
Considering that this topic is rarely exposed aspects concerning any functional limitation,
by the media and there is a lack of information aesthetic dimension, as well as numerous per-
and knowledge about it, it could be suspected that sonal and relational factors related to the charac-
hand pathological conditions have less of a psy- teristics and meanings that the hand assumes
chological impact than other congenital malfor- within the life of the individual and their family
mations or traumatic impairments. However, system.
such a conclusion would underestimate the psy- Several observations proposed by psycholo-
chological and social problems raised by a dis- gists, surgeons, and physiotherapists working on
ability involving a part of our body that is this topic highlight the need for a synergistic
indispensable owing to the functional and rela- approach involving various professionals [2].
tional roles it plays in everyone’s life. Parents will more easily accept and complete
The psychological aspects related to the con- a therapeutic plan if they emotionally process and
genital upper limb or hand anomaly have long accept their child’s hand.
been considered secondary and undervalued If a parent is not even beginning to emotion-
compared with other malformations such as those ally confront his/her child’s hand, the therapeutic
affecting the face. option will always be unacceptable and a source
The peculiarity of the hand, however, was of frustration, although improving the quality of
underlined not only by the health specialists life and functionality. The proposal would be
directly involved in this field, but also by the refused because it would be considered inade-
importance attributed to the hand by those par- quate with respect to expectations, especially if
ents and by those children who face particularly the only acceptable proposal for the parent is an
serious and complex syndromic patterns [1]. impossible “restitutio ad integrum.”
Therefore, parents who face the congenital Detecting parents’ expectations, particularly
pathology of their child, may experience more unrealistic and impossible ones, represents a use-
difficulties in receiving information from the ful tool to identify early on the difficulties that
1 The Congenital Hand: Psychological Aspects 3

could alter parents’ ability to guide their child In the event of psychological problems that
into the different phases of the therapeutic plan. cannot be solved by counseling, patients should
This first approach to parents’ expectations be switched to a psychotherapeutic approach.
and desires is very important as clinicians have The interview with the psychologist allows the
the awareness that for young patients it is impor- patient to face emotional aspects, helping the par-
tant to follow a therapeutic plan until the end. If ents to expose and understand his/her doubts and
the parents cannot complete the required steps, perplexities. Usually, parents’ uncertainties concern
the child loses the possibility of improving his/ aspects strictly related to the therapeutic options and
her situation. Moreover, starting the therapy protocol, but usually they are worried also about life
would mean more visits, surgeries, and physio- situations involving social skills, general child
therapy sessions for the child without improving development, and educational aspects.
his/her functional and physical condition. Sometimes parents find it difficult to tell the
Furthermore, patients’ quality of life is equally difference between their child with a congenital
important: if an appropriate re-elaboration of the hand malformation and somebody who has had
hand is not achieved and the hand is not emotion- an injury of a traumatic nature.
ally accepted by the owner and their family, it is In the case of a child with a congenital hand
likely that it will not be used because it is experi- there is no interruption of a psychological and
enced as a source of psychological problems. neuropsychological continnum.
The interventional role of the psychologist In terms of self-perception, the subject who is
within the team is therefore to support the patient born with a congenital anomaly of the hand is, in
and their relatives, as early as possible, in a re-elab- fact, “perfect to himself.”
oration process leading to the acceptance of re- Even if completely understandable, the fact
elaboration and acceptance of the congenital hand. that the child is experienced by parents as a
In practical terms, it is essential that the psy- “damaged child”, because it is morphologically
chologist attends the first visits and then, subse- different, requires a prompt response. In fact, this
quently, is available to the family throughout the parents’ perception will inevitably affect the par-
therapeutic protocol. ent/child relationship and it will bias the develop-
ment of the child’s own self-image. It should not
be forgotten that personal identity arises from the
1.2 Patients, Hand, interaction of the individual with other signifi-
and Emotions cant individuals and with the social systems to
which he/she belongs.
Parents attending the Hand Surgery department It goes without saying that we can affirm that
to find a solution for their child’s hands experi- the development and evolution of the self-iden-
ence intense emotions of anxiety, depression, tity is in all respects a development, because it is
fear, frustration, shame, anger, sadness, and for a making of meanings that develops during social
some children even total acceptance or a sense of interaction. For children, especially younger
pride [3]. ones, parents represent “the other” by antonoma-
Even when they are of high intensity, such sia. It is very important to start the early and
emotional manifestations are common reactions timely processing of acceptance and manage-
to stressful events, and in most situations, the par- ment of emotions linked to hand malformation: it
ticipants can find support and reach acceptance is a way of consolidating the construction of self
within the proposed therapeutic protocol. and social identity and preventing psychological
However, if such emotions became stable and and psychopathological risks in adolescence [4].
do not spontaneously evolve and resolve, it is If the parent accepts the hand anomaly of the
essential to evaluate the duration and, intensity of child, then the child will be able to accept their
these emotions and their impact on quality of life. hand, with a positive impact in terms of compli-
4 D. Pajardi and A. Viano

ance with the therapeutic plan and in terms of ability to act, making it almost impossible for
quality of life. them to choose whether or not to follow the pro-
The birth of a child with a congenital disease posed plan. On the contrary, some parents are
is often a situation for which the parents are not moved by the urgency to fix the problem as soon
prepared, especially because it is usually an as possible without stopping to think about what
unexpected event. they are willing to do. Both reactions highlight
The discovery that their baby has a congenital the difficulty in accepting the child’s congenital
hand anomaly obscures a happy moment of par- hand condition and the perception of medicine as
ents’ life, whether the parents learn of the child’s an omnipotent science. This belief, which is
congenital hand anomaly at birth or during pre- sometimes fed by the media, sustains parents’
natal diagnostics. often unrealistic expectation of solutions.
Most parents discover the congenital hand When the real potential of surgery is explained,
condition at childbirth because prenatal screen- the parent with unrealistic expectations will inev-
ing revealed that the child was healthy, and the itably be disappointed. This feeling usually inter-
anomaly had not been discovered earlier. feres in the surgeon/parent relationship in the
The parents must face a highly stressful situa- form of mistrust, distrust, or even rejection,
tion, which can also be more distressing because because it disregards what parents expected and
the malformation is unexpected and sometimes hoped for.
totally ruled out by the prenatal screening. In these situations, even the best possible solu-
Prenatal screening is, in fact, commonly consid- tion and the most successful intervention will
ered to be able to rule out any anomaly at all. This easily disappoint and there will be less motiva-
fallacy originates because parents do not consider tion to follow the therapeutic plan, consequently
that screening results have a statistical value, but leading to a higher risk of drop-out.
they attribute to them fantastic and unrealistic The relationship between parents and the care
powers. Prenatal screening is very important to team is a crucial element of medical care and the
allow parents to develop their acceptance of the psychologist can have a “joint” function.
malformation and to avoid trauma at the birth of To fulfill this function, in our team the psy-
their child [4]. chologists attend and observe the visit with the
When parents realize that their child has a surgeon, perform interviews with parents after
hand anomaly, the request to clinicians is to fix the visits, offer the possibility of the family meet-
the problem as soon as possible to reach a situa- ing the psychologists and to be supported through
tion of normality: the parent would like to count the entire treatment phase. On the operational
a five-fingered hand. The intensity of the parents’ level, the possibility for the different profession-
emotional reaction to the child’s congenital hand als to compare their impressions becomes crucial
anomaly is independent of the gravity and vast- to reciprocally activating interventions based on
ness of the condition, but it is related to the visi- the patient’s detected needs.
bility of the hand by others’ eyes [5]. The probability of treatment drop-out is lower
Parental emotional experiences need to be when parents accept the congenital hand condi-
accepted in an appropriate professional context tion and when the unrealistic expectations of the
able to recognize the difficulty parents are facing possible solution of the child’s problem are
and to support them. In this way, parents’ emo- detected and modified. This approach allows
tions can become proactive and motivate them to major compliance with the proposed plan, avoid-
improve their child’s condition instead of remain- ing that child skipping scheduled surgical inter-
ing on an emotionally static level. ventions or neglecting the physiotherapeutic
Initially, the feelings of guilt and the psycho- protocol, which, for the patient, would mean los-
logical experience of having generated an ing a chance to improve their condition [1, 5].
“incomplete” child experienced by parents can in The therapeutic protocol can have parts that can
fact in some cases freeze all possible parental be unexpected, both in terms of surgical proposal
1 The Congenital Hand: Psychological Aspects 5

and in terms of activities that the parent did not stress to mothers with infants with other malfor-
expect to continue. mations. Stress must be analyzed by clinicians
As a matter of fact, some surgical suggestions because it can influence the decision-­ making
are more difficult than others to accept for par- strategies of parents in adhering to or rejecting a
ents. Indeed, sometimes they fear the proposed certain surgical path.
surgery because they perceive the intervention as These considerations should have highlighted
possible further damage to their child’s body. the psychological issues involved in the congeni-
Proposals such as toe transfer and the removal tal hand condition and in the relationship with the
of finger nubs increase fears and enhance the psy- clinicians and staff, participating in improving
chological perception of damage. In the case of the condition of the child.
the toe transfer, the parents report the fear that the To summarize, the decision-making process
foot, from which the toe is removed can be func- regarding the surgery and the subsequent treat-
tionally and aesthetically damaged. ment is particularly long and painful: parents face
In the case of the removal of the finger nubs, a problem that they had not ever considered pos-
parents may be doubtful about the nubs because sible and furthermore, for which they must make
the fact they can count five fingers can be more a choice on behalf of their child, basing their
important than functional improvement. In the decision on unfamiliar and unknown medical
case of finger nubs, the segments are not fingers, notions.
neither in anatomical nor in functional terms. The contact with the health care setting repre-
Parents must face a difficult decision-making sents a moment that is particularly full of anxiety:
process to decide whether to proceed with an the parents bring their own expectations, and they
unexpected surgery. In this process, timing is also must face them to the limits of medical/surgical
fundamental as, from a surgical point of view, it knowledge. On the one hand, the possibility of
is essential to intervene when the child is about facing a diagnosis and the consequent proposal of
1 year old to allow the child to develop the func- a therapeutic plan uplift and reassure the parent.
tionality of the hand. However, parents perceive On the other hand, however, comparing their
the baby as fragile and delicate, too young and unrealistic expectations with the available possi-
small to tolerate surgery and anesthesia. bilities is a difficult and emotional moment for
In this view, parents’ request to wait a few parents who have to face a truth for which they
years before performing surgery is completely are not ready and that is difficult to accept.
understandable. However, the idea that the surgi- Parents may be so involved in their feelings and
cal treatment can be postponed until school age is expectations. Therefore, it is essential that the
still too common and it is also an indications that surgeon communicates using comprehensible
is not very respectful of psychological, neuropsy- language, avoiding at best the use of technical
chological, functional, and rehabilitative find- terms, to prevent increasing anxiety levels in the
ings. Actually the hand is important because not parents and overcoming their distress [7].
only it is involved at the beginning of child devel- The gap between the professional assessment
opment, it also supports their adequate cognitive of the surgeon and the evaluation of the parents is
and emotional evolution. sometimes intense and relevant. The surgeon val-
The earlier the surgery is performed, the easier ues functionality the most, whereas the parents
it will be for the child to accept their post-surgical also value the aesthetic dimension, which also
hand. Parents must also face the difficulty of tak- has high expectations invested in it. It is impor-
ing responsibility and deciding for another indi- tant that the surgeon is aware of the link between
vidual: their child. Parents often report doubts functional and aesthetic elements: a hand with
about how their child will evaluate their decision unnatural movements, although morphologically
about surgery, once grown up. Kim et al. [6] normal, catches the eyes more than a hand that
pointed out that mothers of infants with hand and can be moved naturally, even if morphologically
foot malformations have a similarly high level of different from what is expected.
6 D. Pajardi and A. Viano

Hoping for success in giving their child a in every proposed treatment, especially surgery,
“five-fingered hand”, the parents keep repeating aimed at improving a child’s situation represent
the same question and asking for the same expla- crucial moments for the parents.
nations, requesting unrealistic solutions: it is not For some parents, the possibility of identify-
due to a cognitive problem but to the emotional ing the optimal solution is closely related to the
difficulty in complying on a psychological level. possibility of starting to accept the child and the
Understanding means that they must leave malformation. It is not strange that each parent
behind their illusions and hopes of giving their seeks a solution that can help to cope with the
child a “normal” hand. Parents’ pain can be so experiences raised by the hand anomaly of their
intense that they try to propose unlikely solutions child, depending on the emotional experiences
that do not have any scientific basis such as using and the extent of their acceptance of the
stem cells or replacing their child’s hand with situation.
their own. In the latter case it can be classified as The phase following surgery represents for
“acting out” from a psychological point of view. some parents facing a situation that has been
This attention to aesthetic aspects and the immediately experienced to be better than the
desire to remove the psychological distress starting one, whereas for others it is the clash
caused by the hand of their child lead some par- with the limits of surgery and, therefore, the end
ents to request the use of aesthetic prostheses, of their unrealistic and miraculous expectations.
even for very small children. The request for the After the surgery, the hand needs a new process
use of these safeguards must be carefully assessed of acceptance and re-elaboration of the situation
and evaluated in relation to the specific case to of the child, which is sometimes as tiring and as
avoid the prosthesis becoming a hiding place for intense at the emotional level as the time of the
the malformation and a way of not accepting the birth of the child.
condition [8]. Despite the difficulties during the decision-­
From a psychological point of view, the making process that lead to the decision to per-
request for prosthetics should come directly from form the surgery, it should be underlined that
the person concerned. In order to allow the devel- during follow-up parents confirm that they are
opment of the sensitivity and functionality of the satisfied with the results obtained, both from an
limb, the guidelines suggest not introducing aes- aesthetical and from a functional point of view
thetic prostheses before adolescence. This would [9, 10]. Furthermore, it is easier to deal with sur-
allow complete and optimal development of the gery, even if experienced as aggressive and
limb. However, when talking of a request for potentially damaging, rather than facing the
early prosthesis, we refer to those that are asked impossibility of intervening in any way.
for in children who are only a few months old: in Therefore, it is not correct to talk about a single
these cases, the request expresses a parents’ need. event of re-elaboration and acceptance of the
The specialist can accept the prosthesis congenital hand anomaly, but it would be more
request when there is no risk of mystification of appropriate to consider re-elaboration and accep-
the parent’s difficulties in accepting the child’s tance as a process involving different moments of
congenital hand anomaly and the related diffi- a family system’s life related to the different steps
culty in accepting the child entirely with his of the clinical pathway.
hand.
The prosthesis, in fact, does not replace a hand
and does not eliminate the malformation, but it 1.3 Psychologist’s Intervention:
simply hides it. Furthermore, from a pragmatic Timing Mode
point of view, the child grows quickly, and the
prostheses must be replaced every 6 months The interview with the psychologist offers a
which is unnecessary and harmful, as well as space where the parent can reprocess the prob-
very onerous. The strong emotional involvement lem, gives the opportunity to express doubts and
1 The Congenital Hand: Psychological Aspects 7

perplexities about the therapeutic pathway, sup- before the surgical procedure: it is in fact crucial
ports parents in decision-making, highlighting to allow the parents to have time and space to dis-
realistic or even unrealistic expectations, and cuss the above-mentioned aspects. One of the
facilitates communication between the care team advantages is the possibility of meeting the sur-
and the family. Sometimes in rare and specific geon on many different occasions and at different
situations the psychologist can veto, even if tem- stages of the re-elaboration process, which leads
porarily, the possibility of performing surgery. to the parents accepting the situation of the child.
It is important that the family that welcomes Sometimes the parent repeats the same question
the newborn receives the psychological support several times, not because they do not cognitively
as close as possible to the moment when the mal- understand what has been explained to them, but
formation is discovered. because they must reprocess the difference
The promptness of the psychological assis- between hopes and expectations and what can
tance has the aim of receiving the family’s emo- really be done by the surgeon.
tional experiences triggering the resources to The importance of parents’ and children’s
support or activate the re-elaboration of the emotional reactions requires all the clinicians
child’s situation that are present within the family involved to pay attention to the whole family,
system. Franzblau et al. [11] underlined the risk and, therefore, that the whole team are able to
that children live with stress that is unrecognized understand and give meaning to behaviors and
by parents and caregivers. Parents play a strategi- attitudes of the family that are often incompre-
cal role in promoting coping resources, self- hensible to the health personnel: the role of the
esteem, social and emotional support: for this psychologist is also to help the whole team in this
reason, it is very important that clinicians inform task by consulting together.
parents about potential stressors and help them to The presence of a psychologist as a stable fig-
screen for signs of unmanaged emotional stress ure in a surgical team is not yet common practice.
(e.g., anxiety, anger). The possibility of the patient being admitted for
The presence of the psychologist during the psychological consultation on the surgeon’s indi-
first medical examination is useful to support the cation as a common practice and as part of the
family because it allows us to observe relational standard protocol is essential; in fact, through
aspects that are discussed and expanded in the this the family can be helped to accept the spe-
interview following the meeting with the sur- cialist and the team without feeling its emotions
geon. It is advisable that this first medical exami- as pathological reactions.
nation takes place as soon as possible; it can even Furthermore, the psychological consultation
occur before the child’s birth when a prenatal can help to better manage their child’s condition,
diagnosis is made. so that parents feel relieved and can shift their
In the presence of prenatal diagnosis, the par- attention toward a process of elaboration and
ents can start the emotional process of accepting acceptance of the psychological support of the
the child’s condition before birth. On the con- whole family system, thus considering not only
trary, parents who discover their child’s problem the parents and the child but also any siblings.
at birth experience it as a particularly traumatic The latter are in fact involved in their sibling’s
event especially because they have been reas- problem as part of the family and it is important
sured by prenatal screening. As mentioned above, to understand how parents report to them about
prenatal screening is too often interpreted as the condition because it is a meter indicating how
absolute certainty regarding the health and integ- parents are emotionally processing it. It is also
rity of the unborn child, instead of being consid- important to notice if a sibling’s role is correctly
ered a statistical probability, which it is. balanced or if they are excluded or hyper-­
From the viewpoint of offering support to the responsible in their relative’s condition.
family system, it should not be surprising that the The whole family is included in the therapeu-
first medical examination is planned a long time tic pathway starting from the psychological inter-
8 D. Pajardi and A. Viano

view following the first medical examination the life cycle, and particularly when the child
with the surgeon and all the following access to needs to be included in new social contexts such
medical care before and after surgery, and at as school [3, 12].
follow-ups. The child perceives that they is different from
As expected, even the young patient must be others at about 2 years of age and sometimes
involved, and it can be done in many different people start asking them about it. Therefore, the
ways according to their age, because, based on it, child will start asking questions about what hap-
the relevant main topics will be different. During pened and the reasons for this difference.
the first years of the child’s life, they do not com- During the interview between the psycholo-
pare themselves with the social environment nor gist and parents it is important to discuss this
are they aware of or emotionally challenged by topic, in order to help parents to accept the child’s
their condition. Consequently, the interview will questions and supporting him during the inclu-
focus on parents’ needs while taking care not to sion in new contexts, for example, by talking and
exclude the child from communication, to avoid explaining to teachers and educationalists.
feelings of exclusion and anxiety. In fact, even if It is also important to remember that even the
very young, the baby pick up on the fact that surgery and its results need to be discussed, as
much attention and focus are concentrated on after any surgery there is a change that requires
excluding inadequate modality of processing parents and child to adapt to the new reality.
experiences associated with their hand, and it can Furthermore, after surgery it is always necessary
damage the relationship with the care team. to undergo physiotherapy treatment that is usu-
If at first all the members of the family are ally highly intense and challenging, even on the
involved with respect to their cognitive and emo- psychological side. Unlike the surgeon, who
tional resources, the child will have more oppor- manages the surgical gesture inside the operating
tunities to have an individual space to expose room, the physiotherapist involves the parents in
their own feelings and doubts in the future. In a program that proceeds slowly and requires the
fact, at around 4/5 years of age the child is more direct involvement of the parent. The parent will
competent and involved in the discussion both be required to touch and manipulate the child’s
during the surgical visits and during the inter- “hand” and therefore, to become aware of the
views. It is therefore essential that surgeon and results achieved, but also to confront the limits.
clinicians explain their points using clear and The attention of the psychologist must there-
concise language. They should also encourage fore always be directed to the whole family sys-
parents to offer clarifications and information to tem and its subsystems: the individual, the
their child in order to lead and reassure them dur- couple, interpersonal, and the sibling systems.
ing the steps of the therapeutic plan. As patients Considering the complexity of the congenital
are followed up until complete physical develop- hand condition, it is essentially a multidisci-
ment, the opportunity for individual interviews plinary approach that carefully and respectfully
may also be evaluated. Some thematic nuclei are deals with the needs of the child and those of the
more typical of the first years, whereas others family. This requires many professionals to inte-
appear later, among them, it is important to grate in order to provide a complete and adequate
underline the critical topic of the comparison response to the child’s problem and able to pro-
with others and with the child’s social mote the harmonious development of the child
environment. and not only of their malformed hand.
Initially, parents report experiencing glances Working in a multidisciplinary team, in a con-
as intrusive, disturbing, and indelicate, capable of text in which the surgical gesture and the subse-
arousing feelings of shame and intense discom- quent rehabilitation steps remain undoubtedly
fort; they are afraid that the child might experi- central, is fundamental when dealing with a trau-
ence the same emotions. These fears become matic event that has such a strong impact on daily
more intense and reappear at specific moments of living [2, 13].
1 The Congenital Hand: Psychological Aspects 9

References congenital hand or foot differences and its effect on

the surgical decision-making for their children. J
Orthopaed Surg. 2019;27(2):2309499019838900.
1. Pajardi D, Martorana U, Pajardi G. Congenital
[Link]
malformations and compliance to the treatment:
7. Baek GH, Kim J. Improving understanding and
influence of parents’ personal perception of the rela-
outcomes in congenital hand differences. Plast
tionship with the medical team. Clin Exp Plast Surg.
Reconstruct Surg. 2021;148(5):769E–74E. https://
2005;37(1):65–9.
[Link]/10.1097/PRS.0000000000008413.
2. Tedeschi M, Tondelli G. Problemi psicologici in
8. Pilla G, Verni G. Protesi per amputazioni di arto
chirurgia della mano. Psychological problem in hand
superiore in età infantile. Artificial limbs for
surgery. Riv Chir Riab Mano Arto Sup. 1992;29(1,
upper- extremity in children. Chirurgia della Mano.
2):205–11.
1989;26(1):119–21.
3. Carlsson IK, Dahlin LB, Rosberg H-E. Congenital
9. Bellew M, Haworth J, Kay SP. Toe to hand transfer in
thumb anomalies and the consequences for daily
children: ten year follow up of psychological aspects.
life: patients’ long-term experience after correc-
J Plast Reconstr Aesthet Surg. 2011;64(6):766–75.
tive surgery. A qualitative study. Disabil Rehabil.
[Link]
2018;40(1):69–75. [Link]
10. Bradbury ET, Kay SPJ, Hewison J. The psychological
.2016.1243159.
impact of microvascular free toe transfer for children
4. Didierjean-Pillet A. The psychological approach of
and their parents. J Hand Surg. 1994;19(6):689–95.
hand’s congenital disparity [Approche psychologique
[Link]
de la malformation congénitale de la main. La mal-
11. Franzblau LE, Chung KC, Carlozzi N, Chin AYT,
formation congénitale, le désir de savoir]. Ann Chir
Nellans KW, Waljee JF. Coping with congenital hand
Plast Esthet. 2002;47(1):2–8. [Link]
differences. Plast Reconstr Surg. 2015;135(4):1067–
S0294-­1260(01)00079-­6.
75. [Link]
5. Pajardi D, Viano A. Malformazioni congenite della
12. Bradbury E. The psychological and social impact of
mano: aspetti psicologici e supporto. In: Landi A,
disfigurement to the hand in children and adolescents.
Catalano F, Luchetti R, editors. Trattato Italiano di
Dev Neurorehabil. 2007;10(2):143–8. [Link]
Chirurgia della Mano. Roma: Verduci; 2007. p. 995–9.
org/10.1080/17518420701281122.
6. Kim J, Gong HS, Kim HS, Seok HS, Oh S, Baek
13. Bradbury E. People with disfigurement. Leicester:
GH. Parenting stress in mothers of children with
BPS Books; 1996.
 Babies Hand Imaging and X-ray
2
Gaetana A. Rispoli and Maurizio Zompatori

Abstract by experienced radiologists, US can provide

complete clinical information.
Pediatric diagnostic imaging for hand pathol-
Diagnostic imaging has a primary role in
ogy uses all the basic radiology exams such as
patient treatment and preoperative planning,
X-ray, CT scan, MRI, ultrasound and colour
and it can lead to significant changes in patient
Doppler US. The choice of the best diagnostic
therapeutic pathways.
imaging technique depends on the specific
disease and on the patient’s collaboration.
Keywords
Conventional X-ray is still today an invalu-
able diagnostic approach, notably for trauma Pediatric hand pathology · Diagnostic
and malformations. Radiography has many imaging approach · X-ray · Computed
advantages in pediatric examinations: most tomography · Ultrasound · Magnetic
importantly it does not need sedation and resonance
exposes the child to a very low radiation dose.
On the other hand, when required by the
clinical assessment, the choice of a second-­ 2.1 Traumatic Injuries
line investigation must be taken, considering
the obstacle of a not-collaborating patient, in a Hand traumatic injuries are extremely common
long and static MRI examination, as well as in children. The growth and development of the
the risk of a high dose radiation exposure, in skeletal system influence both the radiological
CT-scan exams. aspect of a fracture and its remodelling character-
Ultrasound provides an excellent diagnos- istics during the healing process.
tic potential in tendon, muscle and soft tissue A child bone lesion may appear typical and
injuries and diseases. Furthermore, US does thus easily detectable, yet it is often insidious;
not use radiations, and it is highly repeatable therefore, a correct interpretation of radiological
and undemanding. Therefore, when performed imaging requires a thorough knowledge of the
evolutionary anatomy of the skeleton.
Conventional radiography comprises two
standard projections: antero-posterior (AP) and
G. A. Rispoli (*) · M. Zompatori latero-lateral (LL), taken to investigate the fin-
Department of Radiology, San Giuseppe
MultiMedica Hospital, IRCCS University of Milan,
gers and the wrist; or AP and oblique, to investi-
Milan, Italy gate the hand. Additional oblique projections,
e-mail: [Link]@[Link]; such as the scaphoid projection, can complete the
[Link]@[Link]

© Springer Nature Switzerland AG 2023 11

G. Pajardi (ed.), Pediatric Hand Surgery, [Link]
12 G. A. Rispoli and M. Zompatori

a b c

Fig. 2.1 Standard projections (a) AP e obl of the hand; (b) lateral projection for the fingers; (c) scaphoid projection

exam if indicated by the radiology specialist

(Fig. 2.1).
In case of uncertain radiologic interpretation,
notably in the physeal region traumas, a compar-
ative radiograph of the contralateral limb may
help resolve any doubts.
Pediatric diaphyseal finger fractures have
aspects similar to the adult ones (simple or com-
pound, displaced or undisplaced, transverse,
oblique, spiral, etc.) (Fig. 2.2), but there is a
peculiar diaphyseal injury, typical of the pediatric
age: the Greenstick fracture (Fig. 2.3). In the
upper limb, it usually concerns the forearm
(radius and ulna): it is a transverse fracture of the
cortex and the spongy bone, without disruption
of the cortex and the periosteum on the opposite
side, that appears simply bent.
Physeal fractures are very common in chil-
dren, as the cartilage of the growth plate is fragile
and porous, thus vulnerable in most traumas.
Physeal injuries are classified into five catego- Fig. 2.2 Diaphyseal finger fractures (III metacarpal)
ries according to the Salter–Harris classification.
2 Babies Hand Imaging and X-ray 13

a b

Fig. 2.3 (a, b) Greenstick fracture distal radius left, pr. Ap e lateral comparative

Salter Harris fractures

Normal Type I Type II Type III Type IV Type V

In Salter–Harris types I and II, a correct diag- high signal intensity on T2-weighted images.
nosis can be obtained by using only the AP and Besides, MRI does not deliver ionizing radiations
lateral x-ray projections (Fig. 2.4). (Fig. 2.7a, b).
In high-energy injuries (Salter–Harris types Carpal bone injuries are rare in young children,
III and IV) that typically affect the articular pro- where the ossification nuclei are still mainly carti-
file, CT scan may be required to visualize in laginous, whereas they are quite common during
greater detail the comminuted fragments. adolescence. Carpal lesions are difficult to evaluate
CT scans deliver a higher dose of radiation radiologically: both X-ray and CT scan often lead
than standard X-rays, thus this method should be to misunderstanding, as cartilage is radiolucent.
used according to clinical indication, respecting When clinical assessment remains uncertain,
the ALARA principles (as low as reasonably in persistence of pain and in the absence of evi-
achievable) (Fig. 2.5). dent fracture, a bone bruise must be suspected
For its high resolution, CT scan remains an and appropriately investigated using MRI. Bone
essential imaging technique for the settings of bruises are not visible on conventional radio-
fractures where detection and treatment of subtle graphs or CT scan images, whereas they can be
findings are vital to prevent subsequent compli- well visualized with MRI on fluid-sensitive fat-­
cations, also thanks to modern multiplanar suppressed sequences.
(MPR) and 3D volumetric reconstructions The bone contusion shows high T2 signal
(Fig. 2.6a–c). intensity, a finding that represents marrow
Finally, the Salter–Harris type V, which is oedema and haemorrhage. The distal radius and
hardly visualized on X-ray, is easily diagnosed carpal bones are common locations for a bone
with the help of MRI, as the bone injuries show contusion in the pediatric wrist (Fig. 2.8).
14 G. A. Rispoli and M. Zompatori

Fig. 2.4 Salter–Harris type II fracture (II finger right): comparative X-ray, particular AP e LL

Among the carpal lesions, scaphoid fracture is

the most frequent in children. Most pediatric
scaphoid injuries result from falls onto an out-
stretched pronated hand, but any compressive
force, such as a direct blow that causes a crush
injury, can result in a scaphoid fracture.
Coexisting soft-tissue injuries are often occa-
sional findings during MR imaging to evaluate
suspected scaphoid fractures.
MR imaging is the best modality for diagnosis
of radiographically occult scaphoid fractures in
children. MR imaging has been shown to have an
extremely high negative predictive value for
scaphoid fracture when performed as early as
2 days after injury. Additionally, MR imaging can
Fig. 2.5 Salter–Harris type III fracture (IV finger) detect significant soft-tissue injuries, TFCC tear,
2 Babies Hand Imaging and X-ray 15

a b

Fig. 2.6 Radial fracture: (a) ray; (b) Ct scan, MPR recontrusction; (c) 3d volumetric recostruction

intercarpal ligament injury and bone contusion assess if there are any vascular physeal damages
with no distinct fracture (Fig. 2.9a–c). that hesitated in longitudinal growth arrest,
Conventional X-ray has a primary role in pseudarthrosis or residual joint stiffness.
post-­traumatic follow-up, to evaluate fragments Follow-up timing should thus depend on the
misalignments, bone healing and above all bone type of trauma and, if necessary, it should be
remodelling. Bone plasticity and great perios- extended until the complete skeletal maturation.
teal vascularization make these processes the Finally, US is the imaging technique of choice
faster, the younger the patient (Figs. 2.10, 2.11, in pediatric patients: it doesn’t use radiations, it is
and 2.12). repeatable and it provides an excellent investiga-
A careful radiological follow-up can quickly tion of muscle and tendon injuries—which may
identify angular deformities of the fracture site, be associated with fractures of the hand bones,
even before the clinical evidence, thus allowing a especially in the physeal injuries (Fig. 2.11).
prompt surgical correction and a more favourable The high detail of US images—obtained at
healing. Over a longer time, it is possible to high-frequency probes (14–18 MHz), currently
16 G. A. Rispoli and M. Zompatori

Fig. 2.7 (a) Frontal comparative X-ray in right wrist through the distal radius extending into both sides of the
trauma shows normal findings. (b) Same day MRI: growth plate, a finding that is the imaging hallmark of
Coronal fluid-sensitive fat-suppressed MR image (STIR) unrecognised fracture
of the distal forearm and wrist shows marrow oedema

a b

Fig. 2.8 Nine-year-old boy with bone scaphoid contu- fluid-sensitive fat-suppressed image (STIR) shows hyper-
sion—MR imaging 10 days after trauma in persistent pain intensity in the same scaphoid area, hallmark of marrow
wrist (normal findings X-ray): (a) MR image cor e sag T1 oedema due to bone contusion
shows hypointensity in the scaphoid area; (b) Coronal
2 Babies Hand Imaging and X-ray 17

Fig. 2.9 (a) Suspected scaphoid fracture. (b) MRI-coronal T1 e T2-fluid-sensitive fat-suppressed image and fat-­
suppressed images show scaphoid fracture with articoular fluid effusion. (c) Coesisting TFCC tear
18 G. A. Rispoli and M. Zompatori

available—allows an expert operator to obtain

excellent diagnostic results in the morphologic
evaluation of muscle and tendon injuries.
Radiography, CT scan and MRI are static, US
has the advantage of dynamic image acquisi-
tions (through both active and passive mobiliza-
tion), thus providing more functional
information.
In the very young child, whose tendon struc-
tures are so small that they are below the reso-
lution power of the MRI (minimum layer of
3 mm), the US is the only exam that can pro-
vide useful information. It can show the pres-
ence of traumatic injuries of tendons, retinacula,
ligaments, vessels, nerves and soft tissues—
both in acute and old traumas. This applies to
both micro-­trauma (lesions of pulleys and ten-
dons of the fingers) and macro-trauma (com-
plex fractures involving large joints, such as the
Fig. 2.10 X-ray scaphoid fracture (11 years old) wrist).

Fig. 2.11 Two months

later—MRI T1-weight a b
(a) and T2 weight (b):
suspected evolution in
osteonecrosis of the
scaphoid

a b

Fig. 2.12 X-ray scaphoid fracture: (a) 6 months later; (b) 30 months later
2 Babies Hand Imaging and X-ray 19

2.2 Congenital Hand Deformities cations (polydactyly, triphalangism, and mirror

and Syndromic hand syndrome), hyperplasia and hypoplasia, and
Malformations finally in all dysplastic and dystrophic form, both
with Prevalent Bone if isolated or part of a more complex syndrome
Involvement (Figs. 2.14a, b and 2.15).
The radiological indication includes a single
Congenital hand malformations comprise a wide AP radiograph, but a controlateral limb image
spectrum of congenital anomalies, which occur may be useful, and it is thus suggested, to verify
between the fourth and the eighth week of preg- whether the malformation is present on both
nancy. They are often associated with a congeni- sides, and otherwise to compare the alteration to
tal syndrome or they are a part of it. the normal anatomy (Fig. 2.16).
Once again conventional X-ray is essential for As the current therapeutic approach is aimed
an initial diagnosis, for its simplicity, low cost, at timely surgical treatment, radiologic investiga-
high tolerability and low dose of radiation tions are often repeated over time to evaluate the
(Fig. 2.13). possible appearance of the ossification nuclei that
X-ray investigation is indicated in all congeni- are physiologically absent at birth. Thereby serial
tal malformation, differentiation defects (synos- X-ray exams show the appearance of supernu-
tosis, symphalangism, syndactyly, arthrogryposis, merary bones as well as bone agenesis, thus pro-
camptodactyly and clinodactily), agenesis, dupli- viding to the surgeon critical information to plan

a b

Fig. 2.13 Pacellar fracture proximal phalanx V finger: (a) X-ray; (b) US visualize the fragment of fracture and no
tendon tears

a b

Fig. 2.14 (a) Hypodisplasia and agenesia; (b) duplication phalanx and agenesis
20 G. A. Rispoli and M. Zompatori

Fig. 2.15 Mirror hand syndrome and soprannuneraries bone sketch

Fig. 2.16 Bilateral

symmetric syndactyly
bone

a b

Fig. 2.17 (a) Agenesis fingers in 5 year old girl; (b) 5 years later phalanx ossification nuclei appear

and predefine the surgical intervention. Similarly, In planning a therapeutic/surgical approach,

in complex syndromes, they are used in post- conventional X-ray are supported by other tech-
operative follow-up, to schedule further re-inter- niques, such as US and MRI. US investigation, in
vention (Fig. 2.17a, b). addition to being cost-effective and well tolerated
2 Babies Hand Imaging and X-ray 21

by children, is highly repeatable and provides Appropriate anamnesis and careful clinical
dynamic images, which are optimal for the inves- examination are essential in the initial clinical
tigation of muscle and tendon alterations associ- approach, but, primarily in complex cases and
ated with hand malformations. preoperative evaluations, need to be supported by
For example, in the pre-operative evaluation, diagnostic imaging techniques.
US is used to assess whether the supernumerary The diagnostic imaging exams aim to identify
bones are supported by a muscular-tendon struc- and describe anatomical, pathological and hae-
ture or not. Or in the opposite case, to research modynamic characteristics of each lesion, as well
muscles before the surgical correction of a major as the secondary effects on surrounding tissues
malformation with partial bone agenesis. and the associated systemic manifestations.
Moreover, US exams provide a dynamic study The Doppler US is the first-line and essential
of joints, with particular attention to anatomical diagnostic technique, which can be followed by
alterations of synovial structures and tendons; further investigations with CT scan and MRI.
this permits to identify the congenital trigger In CVM and vascular tumours, conventional
thumb, with or without the characteristic Notta X-ray has marginal usefulness, whereas it is often
nodules (commonly found on the palmar side at erroneously requested, as the first-line investiga-
the metacarpophalangeal joint). tion, for focal pain or swelling. In such cases, the
MRI, despite showing both bone and muscle presence of calcified phleboliths could lead up to
in greater anatomical detail, cannot be indicated the discovery of unknown CVM. Sometimes
in initial diagnostic preoperative approach X-ray is indicated in complex CVM, which is
because of the elevated cost and the need of seda- associated with bone-developing anomalies for
tion of children. For this reason, MRI is used for excessive or poor blood supply to epiphyseal,
vascular and lymphatic malformations. metaphyseal or diaphyseal region (secondary
bone hypertrophy and hypotrophy).
Colour Doppler US is the first-line investiga-
2.3 Congenital Vascular tion for CVM and vascular tumour: it allows to
Malformations and Vascular locate the lesion and define its haemodynamic
Tumours characteristics: low flow in benign lesions, such
as haemangioma; high flow in arteriovenous mal-
Diagnostic approach to vascular anomalies must formations (AVM); and extremely low flow in
provide a distinction between vascular tumours venous malformations (VM) and absence of flow
(haemangioma, haemangiopericytoma) and con- in lymphatic malformations (lymphangioma—
genital vascular malformations (CVM). LM) (Fig. 2.18).

a b

Fig. 2.18 US haemangioma hand: (a) B mode show soft echogenic mass; (b) colour Doppler image reveals a highly
vascular mass consistent with capillary hemangioma
22 G. A. Rispoli and M. Zompatori

A possible diagnostic limitation of Doppler frighten and irritate the babies, thus requiring the
US exams may be encountered for lack of patient patient sedation.
collaboration, which can result in different altera- The best study for vascular malformations
tions, such as flow abnormalities induced by the needs a high-field MRI machine (at least 1.5
Valsalva manoeuvre consequent to the baby’s Tesla), so as to obtain the best contrast and spatial
crying; or in movement artefacts. In the event of resolution for small lesions. By using different
bulky or deep-located lesions, the exact defini- tissue “weighting” (T1, T2, STIR, generally with
tion of the lesion extension can be difficult. In fat-suppression), CVM may be easily character-
such cases, the US exam has to be compared to a ized in morphological and spatial terms (size,
second-line investigation, such as MRI. location and compartmentalization—limited to
After the initial US investigation, MRI (with subcutaneous tissue or extended to sub-fascial,
or without contrast medium) is the imaging tech- muscular or bone structures) (Figs. 2.19, 2.20,
nique of choice for all CMV. The great advan- 2.21, and 2.22).
tages of this method, in addition to the absence of Finally, the MR angiography (MRA)—with
radiation, are the high spatial resolution, the wide contrast medium—allows to differentiate the
visual field (that is far larger than the US one) and CVM according to the type of blood flow (arte-
the possibility of displaying simultaneously the rial, venous and absence of flow); and the post-
blood flow distribution of the lesion and the sur- processing reconstruction (MIP and 3D) provides
rounding soft and bone tissues. the surgeon an optimal spatial representation.
Unfortunately, the long duration of the exam In a few selected cases, despite the high dose
and the disturbing noise of the machine may of radiation, CT scan is indicated as an alterna-

Fig. 2.19 B mode and colour Doppler US show soft echogenic mass highly vascular in intercarpal space like
haemangioma

a b c

Fig. 2.20 Hand haemangioma MRI: sequence axial T2GE (a), T1 (b) and coronal T2-fat sat (c)
2 Babies Hand Imaging and X-ray 23

Fig. 2.21 Post contrast gadolinium T1 sequence coronal and sagittal: rapid omogenous capillar enhancement of the
lesion

a b c

Fig. 2.22 MRI of a venolymphatic malformation. T2 fat fat (a), T1 weight (b), T1 post mdc (c) absence of enhance-
sat sequence with MIP reconstruction shows a reticular ment into the malformation
micronodular pattern with hyperintensity in subcutaneous

tive to MRI for patients who can’t withstand instead a therapeutic indication for voluminous
sedation and thus need a faster exam. Furthermore, AVM and other lesions that can be successfully
CT scan is indicated in the follow-up of extremely treated through endovascular embolization.
bulky AVM, which have been previously treated
through embolization with spiral or metallic
clips—as these materials determine relevant arte- 2.4 Tumours, Post-traumatic or
facts in MR images. Post-surgical Inflammatory
Currently, digital angiography is no more and Infectious Diseases
indicated as the diagnostic exam for studying the
exact architecture and haemodynamics of CVM, Diagnostic imaging of tumours is directly related
the research of arterial afferent pedunculi, nidi to the lesion onset location.
and venous efferences—as all these elements are Hand neoplastic lesions include: benign bone
well displayed in MRI. Digital angiography has tumours (chondroma, aneurismatic bone cyst and
24 G. A. Rispoli and M. Zompatori

solitary cyst), malign bone tumours (osteochon- All benign and malign expansive lesions that
droma, Ewing tumours, etc.) and soft tissue neo- originate from soft tissues are well visualized in
plasm (rhabdomyosarcoma, synovial-sarcoma, etc.). US investigations: a simple, cost-effective,
The diagnostic pathway in bone neoplastic repeatable exam that, in expert hands, has high
lesions starts with a conventional X-ray exam in sensibility and accuracy.
standard projections (Fig. 2.23a) and needs to be US exams easily identify the solid or fluid
completed by MRI with contrast medium injec- nature of a lesion: thus allowing to diagnose
tion (Fig. 2.24). This is the diagnostic gold stan- benign lesions (lipoma, haemangioma and cyst),
dard, as it allows a simultaneous evaluation of that have well-known characteristics, without the
bone and surrounding soft tissues, as long as the need of second-line investigations.
exact extension, necessary for the preoperative By using high-frequency probes and colour
planning. Doppler US in association with B-mode evalua-
The only real MRI limitation is the poor accu- tion, a first differentiation between benign and
racy in the evaluation of bone erosion and cortex malign lesions can guide the diagnostic pathway
interruption, as they do not change in T1 and (Fig. 2.25).
T2-weighted sequences. In this case, CT scan However, when ultrasonography is not suffi-
provides a greater accuracy, to study the bone cient to provide a diagnostic certainty or the
structure (Figs. 2.23b and 2.24), identify small lesion is bulky and thus not entirely visible with a
early lesions and evaluate the healing process and US probe, MRI, with and without contrast
remodelling after the treatment. For all these medium, is indicated, for an evaluation of local
advantages, the patients must still be exposed to a extension and spatial relationship with contigu-
significant dose of radiation. ous structures.

a b

Fig. 2.23 Enchondroma V finger: (a) litic expansive lesion without cortical erosion in RX; (b) CT scan—MPR recon-
struction—high resolution imaging for the study of bone and cortical structure
2 Babies Hand Imaging and X-ray 25

Fig. 2.24 MRI

enchondroma V
finger—T1 and T2
weight sequence

Fig. 2.25 US B-mode and colour Doppler in nodular mass III finger: Giant cell tumor of tendon sheath

In soft tissue neoplasms, follow-up MRI has a tologic diseases) or secondary (post-traumatic or
primary role, as it provides the greatest reliability post-surgery); these lesions can involve superfi-
in recognizing small nodular recurrences against cial tissues (inflammation and peri-cicatricial
a background of post-therapeutic inflammatory abscesses) as well as deep structures, such as
tissue (Fig. 2.26). joints (synovial membrane, articular capsule, ten-
In soft tissue neoplasms, rather than for mor- dons, retinacula, etc.).
phological characteristics and spatial location, In all these cases US is once more the first-line
CT scan is used for disease staging: research of exam.
distant metastasis, primarily to the lungs. It is In acute primary inflammatory disease, with-
therefore indicated in certain oncologic out involvement of joints and periarticular struc-
protocols. tures, US high frequency probes allow to
Hand inflammatory diseases are frequent in visualize joint effusion, synovial hypertrophy
pediatric patients. They can be primary (rheuma- and diffusion of the inflammatory process to
26 G. A. Rispoli and M. Zompatori

Fig. 2.26 MRI—expansive and infiltrating mass around I and contiguous muscles with high and inhomogeneous
finger (Rabdomiosarcoma): T1 pre (coronal) e post (axial) enhancement
gadolinium: aggressive tissue with infiltration of the bone

contiguous tendon structures (tenosynovitis and aemic); superficial extension and joint diffusion
peri-tendinitis). of inflammation. This allows a prompt patient
In chronic affections (such as in juvenile orientation to the best therapy, so to assure the
rheumatoid arthritis), US evaluates the evolu- success of treatments.
tion of erosions, cortex irregularities, synovial Moreover, US is the exam of choice for the
hyperplasia, calcifications and bone neo-apposi- study of post-traumatic or post-surgical abscesses.
tion or reabsorption. Furthermore, in these US identifies location, margins, characteristics
patients, power Doppler (i.e. capable of detect- (fluid, with particulate matter; infectious or not-­
ing very low flow in hyperaemic areas) can infectious nature according to colour Doppler
assure a follow-up of the activity of rheumato- examination of parietal hyperaemia) and possible
logical diseases. presence of gas—that limits US reliability.
In these patients, there is rarely necessary a When inflammatory processes and collections
second-line investigation, but when there is, MRI are widely extended, involving surrounding bone
is the choice. This expensive and hardly tolerated structures that are not well evaluated by US
method is reserved to those joints which are not method, MRI is indicated. In these cases,
entirely evaluable by US (coxo-femoral joint, T2-weighted sequences with great fluid resolu-
vertebral joints, etc.). tion can provide a complete evaluation of loca-
Finally, US is an optimal method for studying tion and extension of the abscess, as well as of
the post-traumatic (open wound, compound frac- the involvement of contiguous bone structures. If
ture) and post-surgical complications: subcutane- bone is affected by the inflammatory process, it
ous panniculus adiposus and its morphologic will show high signal intensity on T2-weighted
variations, as well as differentiation between images, so that a prompt therapeutic intervention
lymphoedema and panniculitis, thanks to colour may avoid osteomyelitis and other severe
and power Doppler (panniculitis is highly hyper- consequences.
2 Babies Hand Imaging and X-ray 27

Further Reading diagnosis, classification, and therapy follow-up.

Radiographics. 2011;31(5):1321–40.
Fuller DJ, McCullough CJ. Malunited fractures of
Ballah D, Cahill AM, Fontalvo L, Yan A, et al. Vascular
the forearm in children. J Bone Joint Surg Br.
anomalies: what they are, how to diagnose them,
1982;64(3):364–7.
and how to treat them. Curr Probl Diagn Radiol.
Greulich WW, Pyle S. Radiographic atlas of skeletal
2011;40(6):233–47.
development of the hand and wrist. 2nd ed. Stanford,
Battle J, Carmichael K. Incidence of pin track infections
Calif: Stanford University Press; 1959.
in children’s fractures treated with Kirschner wire
Jaimes C, Chauvin NA, Delgado J, Jaramillo D. MR imag-
fixation. J Pediatr Orthop. 2007;27:154–7.
ing of normal epiphyseal development and common
Brandon C, Caoili EM, Feng FY, Girish G, Jacobson JA,
epiphyseal disorders. Radiographics. 2014;34:449–71.
Wang G. Sonography of wrist ganglion cysts: vari-
Johari AN, Sinha M. Remodeling of forearm fractures in
able and non-cystic appearances. J Ultrasound Med.
children. J Pediatr Orthop B. 1999;8(2):84–7.
2006;26(10):1323–8.
Johnson KJ, Haigh SF, Symonds KE. MRI in the man-
Brisse H, Orbach D, Klijanienko J, Fréneaux P,
agement of scaphoid fractures in skeletally immature
Neuenschwander S. Imaging and diagnostic strat-
patients. Pediatr Radiol. 2000;30:685–8.
egy of soft tissue tumors in children. Eur Radiol.
Kaawach W, Ecklund K, Di Canzio J, Zurakowski D,
2006;16:1147–64.
Waters PM. Normal ranges of scapholunate dis-
Cardinal E, Bureau N, Aubin B. Role of the ultrasound
tance in children 6 to 14 years old. J Pediatr Orthop.
in musculoskeletal infections. Radiol Clin N Am.
2001;21(4):464–7.
2001;39:191–201.
Kaiser S, Rosenborg M. Early detection of subperiosteal
Cerezal L, del Piñal F, Abascal F, García-Valtuille
abscesses by ultrasonography: a means for further suc-
R, Pereda T, Canga A. Imaging findings in ulnar-­
cessful treatment in pediatric osteomyelitis. Pediatr
sided wrist impaction syndromes. Radiographics.
Radiol. 1994;24:336–9.
2002;22(1):105–21.
Kannikeswaran N, Sethuraman U. Lunate and perilunate
Chang GH, Paz DA, Dwek JR, Chung CB. Lower extrem-
dislocations. Pediatr Emerg Care. 2010;26(12):921–4.
ity overuse injuries in pediatric athletes: clinical
Kaste SC, Hill A, Conley L, Shidler TJ, Rao BN, Neel
presentation, imaging findings, and treatment. Clin
MM. Magnetic resonance imaging after incomplete
Imaging. 2013;37:836–46.
resection of soft tissue sarcoma. Clin Orthop Relat
Curtis DJ, Downey EF Jr, Brower AC, Cruess DF,
Res. 2002;397:204–11.
Herrington WT, Ghaed N. Importance of soft-tissue
Legiehn GM, Heran MK. Venous malformations: clas-
evaluation in hand and wrist trauma: statistical evalua-
sification, development, diagnosis, and ­interventional
tion. AJR Am J Roentgenol. 1984;142(4):781–8.
radiologic management. Radiol Clin N Am.
Davis KW. Imaging pediatric sports injuries: upper
2008;46(3):545–97.
extremity. Radiol Clin N Am. 2010;48(6):1199–211.
Lurie B, Koff MF, Shah P, et al. Three-dimensional mag-
Donnelly LF, Adams DM, Bisset GS 3rd. Vascular mal-
netic resonance imaging of physeal injury: reliability
formations and hemangiomas: a practical approach
and clinical utility. J Pediatr Orthop. 2014;34:239–45.
in a multidisciplinary clinic. AJR Am J Roentgenol.
Mahnken AH, Bücker A, Adam G, Günther RW. MRI
2000;174(3):597–608.
of osteomyelitis: sensitivity and specificity of STIR
Dubois J, Alison M. Vascular anomalies: what a radiologist
sequences in comparison with contrast-enhanced T1
needs to know. Pediatr Radiol. 2010;40(6):895–905.
spin echo sequences. Rofo. 2000;172:1016–9.
Dubois J, Patriquin HB, Garel L, et al. Soft-tissue hem-
Narváez JA, Narváez J, Aguilera C, De Lama E, Portabella
angiomas in infants and children: diagnosis using
F. MR imaging of synovial tumors and tumor-like
Doppler sonography. AJR. 1998;171:247–52.
lesions. Eur Radiol. 2001;11(12):2549–60.
Dwek JR. The periosteum: what is it, where is it,
Navarro OM, Laffan EE, Ngan BY. Pediatric soft-tissue
and what mimics it in its absence? Skelet Radiol.
tumors and pseudo-tumors: MR imaging features with
2010;39(4):319–23.
pathologic correlation: part 1. Imaging approach, pseu-
Dwek JR, Cardoso F, Chung CB. MR imaging of over-
dotumors, vascular lesions, and …. Radiographics.
use injuries in the skeletally immature gymnast: spec-
2009;29(3):887–906.
trum of soft-tissue and osseous lesions in the hand and
Paltiel HJ, Burrows PE, Kozakewich HP, et al. Soft-­
wrist. Pediatr Radiol. 2009;39(12):1310–6.
tissue vascular anomalies: utility of US for diagnosis.
Ecklund K, Jaramillo D. Patterns of premature phy-
Radiology. 2000;214:747–54.
seal arrest: MR imaging of 111 children. AJR Am J
Patil P, Dasgupta B. Role of diagnostic ultrasound in the
Roentgenol. 2002;178(4):967–72.
assessment of musculoskeletal diseases. Ther Adv
Egol K, Koval KJ, Zuckerman JD. Handbook of frac-
Musculoskelet Dis. 2012;4(5):341–55.
tures. 4th ed. Philadelphia, PA: Lippincott Williams &
Pineda C, Espinosa R, Pena A. Radiographic imaging
Wilkins; 2010. p. 660–80.
in osteomyelitis: the role of plain radiography, com-
Flors L, Leiva-Salinas C, Maged IM, Norton PT, et al.
puted tomography, ultrasonography, magnetic reso-
MR imaging of soft-tissue vascular malformations:
nance imaging, and scintigraphy. Semin Plast Surg.
2009;23:80–9.
28 G. A. Rispoli and M. Zompatori

Sanchez TR, Jadhav SP, Swischuk LE. MR imaging of Tibrewal S, Jayakumar P, Vaidya S, Ang SC. Role of MRI
pediatric trauma. Magn Reson Imag Clin North Am. in the diagnosis and management of patients with clin-
2009;17:439–50. ical scaphoid fracture. Int Orthop. 2012;36(1):107–10.
Shi DP, Zhu SC, Li Y, Zheng J. Epiphyseal and phy- Trevor W, Oren M, Jennifer M, Wolf MD. Soft-tissue
seal injury: comparison of conventional ­radiography complications associated with distal radius fractures.
and magnetic resonance imaging. Clin Imaging. Oper Tech Orthop. 2009:100–6.
2009;33(5):379–83. Tsai TS, Evans HA, Donnelly LF, Bisset GS 3rd, Emery
Siegel MJ. Magnetic resonance imaging of muscu- KH. Fat necrosis after trauma: a benign cause of
loskeletal soft tissue masses. Radiol Clin N Am. palpable lumps in children. AJR Am J Roentgenol.
2001;39:701–20. 1997;169:1623–6.
Teefey SA, Dahiya N, Middleton WD, Gelberman RH,
Boyer MI. Ganglia of the hand and wrist: a sonographic
analysis. AJR Am J Roentgenol. 2008;191(3):716–20.
 Hand Defects: An Isolated
Anomaly Or a Syndromic Disease?
3
Angelo Selicorni, Paola Cianci, Silvia Tajè,
and Massimo Agosti

Abstract Keywords

Patients with hand congenital defects are a Major malformations · Hand anomalies ·
very heterogeneous cohort. Like for any other Syndromic diseases · Apert syndrome ·
major malformation, one of the goals of the Pfeiffer syndrome · Saethre–Chotzen
clinical approach is to define if the anomaly is syndrome · Crouzon syndrome · Freeman–
an isolated problem or if it’s part of a more Sheldon syndrome · Oro-facio-digital
complex genetic disease. This definition syndromes · EEC syndrome · Array CGH ·
sometimes it’s not so easy, but it’s crucial in Next Generation Sequencing (NGS)
order to define a correct prognosis for the
child and a proper genetic counseling for par-
ents, for their relatives and, in the future, for 3.1 Definitions
the patient itself. Tor achieves the aforemen-
tioned result, it’s important to follow a specific Like in other parts of the body, the hands can be
methodologic approach that starts from a an area in which different kind of congenital
detailed clinical analysis of the patient and anomalies can be evident. Generally speaking,
that can properly use the known genetic tests. we can distinguish these defects into two differ-
In this field in recent years, new very powerful ent types. We can in fact observe major malfor-
tests have become available (array CGH and mations that are congenital anomalies with
NGS) greatly increasing the possibility of a relevant medical consequences (e.g., the loss of a
correct framing also in front of very complex thumb, the presence of a supernumerary finger,
children, and so saving time and money. etc.) and which frequently deserve a surgical
approach; or minor anomalies that refes to
defects with no or very minimal clinical impact
which can have only aesthetic consequences
(e.g., a mild skin syndactyly or a clinodactyly of
A. Selicorni (*) · P. Cianci · S. Tajè
the fifth finger) [1]. These defects are due to an
Pediatric Department, Mariani Foundation Center for intrinsic embryological abnormal process. We
Fragile Child, “Sant’Anna” Hospital, ASST Lariana, know that organogenesis takes place during the
Como, Italy first 10 weeks of gestation, so that these anoma-
M. Agosti lies develop in the embryo only during that range
Pediatric Department, “F. Del Ponte” Hospital, ASST of time.
Settelaghi, University of Insubria, Varese, Italy

© Springer Nature Switzerland AG 2023 29

G. Pajardi (ed.), Pediatric Hand Surgery, [Link]
30 A. Selicorni et al.

Fig. 3.1 Clinical Different combination of these possible areas of involvement

features of a syndrome
- Abnormal growth pattern ( both poor or increased)
- Presence of major malformations ( considering both the classical and the
occasional one)
- Abnormal psychomotor development
- Peculiar minor anomalies (especially but not exclusively related to facial
gestalt)

Specific genetic defect

Sometimes interpretation of these signals is with an absolutely typical and severe syndactyly
not so easy. The example can be the evidence of a pattern of hands and feet, with possible associ-
post-minimum skin appendix on the ulnar side of ated anomalies in growth, psychomotor develop-
the hand. This little anomaly has no meaningful ment; all these features are due to a specific
medical consequences but it’s a very mild expres- mutation in FGFR2 gene.
sion of a postaxial polydactyly which is a true
major malformation.
Again together with malformations, a hand 3.2 Why a Proper Classification
anomaly could also be the result of deformation. of Hand Malformations Is
We define deformation as those congenital So Important?
defects which are not related to an embryonal
abnormal developmental process but that arise The relevant question is what are the conse-
after a normal embryogenesis due to a damage to quences of a correct classification of a hand con-
normally developed structures. The classic exam- genital defect as isolated or syndromic. Table 3.1
ple of deformation is the consequences of amni- analyzes the situation. It’s obvious that in case
otic band disruption process in which we can the child is affected by a genetic syndrome, his
observe lesion at the hands/fingers of various prognosis, in the great majority of the situation, is
severity, very often asymmetrical in clinical pre- more deeply influenced by the natural history of
sentation between different fingers and different the syndrome itself, rather than by the specific
hands. functional prognosis of the hand defect. Survival,
Similarly to every kind of congenital defects, physical growth, psychomotor and intellectual
also hand anomalies can be isolated or part of a development can be more or less severely condi-
broader disease named syndrome. In 2005, tioned by the natural evolution of the disease.
Biesecker discussing this point related to poly- The frequency, needs and type of medical follow-
dactyly stated that “… the problem of non syn- up can be extremely different in the two situa-
dromic polydactyly is formally insoluble…. So tions (isolated or syndromic defect) and the hand
we define “syndrome” a clinical condition in defect can often represent a minor problem to
which a child can have various medical/func- face in comparison with the others in a syndromic
tional problems which are due to a single genetic setting. Finally, the recurrence risk of the usually
anomaly”. Figure 3.1 defines the areas of involve- healthy parents and of the child himself as soon
ment of a syndrome [2]. A classical example is as he/she will be an adult will be very different
represented by Apert syndrome: a very common according to the classification of the defect as
pattern of craniofacial anomalies is associated isolated or syndromic.
3 Hand Defects: An Isolated Anomaly Or a Syndromic Disease? 31

Table 3.1 Consequences of a correct classification of a syndromic condition. This is the case in which
congenital hand anomalies the newborn shows multiple congenital defects,
Isolated defect Syndromic defect clear dysmorphic features, abnormal birth auxo-
General health Usually Potentially criticala logical parameters, and/or abnormal neurologic
prognosis favorable
status. In these cases, the question is whether it’s
Survival Normal Potentially
abnormala possible to perform a “gestaltic diagnosis” or not.
Growth pattern Normal Potentially More often the hand anomaly seems at first
abnormala glance to be an isolated problem. In this context,
Psychomotor Normal Potentially it’s important to perform a proper clinical and
and intellectual abnormala
instrumental evaluation, in order to search for
development
Follow-up Only related to Often need for a possible associated major malformations, func-
needs the hand wider tional defects (e.g., audiological or visual defi-
malformation multidisciplinary ciency), and dysmorphic minor anomalies.
approacha Family and pregnancy history is essential too in
Functional Only related to Strongly influenced
prognosis of the type of also by the general
order to better classify the problem. It’s well
the hand malformation functional known the existence of an isolated hand defects
malformation and the prognosis of the which can have a mendelian segregation mostly
possibility of syndrome according to autosomal dominant inheritance
surgical
correction
(e.g., pre- and postaxial polydactyly, triphalan-
Recurrence Usually low Potentially geal thumb, and ectrodactyly). In addition, some
risk for parents (apart from increasedb genetic syndromes (like Pfeiffer syndrome, for
specific example) have a dominant transmission too. It’s
monogenic always important to consider that in some situa-
isolated
condition) tions the variability of expression of the disease
Recurrence Usually low Potentially and the absence of intellectual involvement can
risk for the (apart from increasedb have prevented the recognition of the disease in a
child specific relative. For all these reasons, a three generations
monogenic
isolated genealogic tree should always be performed and
condition) direct parents’ evaluation could be useful, in
Related to the natural history of the syndrome
a order to deeply evaluate possible familiar patho-
Related to the genetic basis of the syndrome
b
logical traits that can be crucial for the classifica-
tion of the proband’s defect.
If no associated anomalies are evident, it can
3.3 The Clinical-Genetic be reassuring for the clinicians, but it must be
Diagnostic Process kept in mind that the hypothesis of a syndromic
condition needs to be confirmed by the evolution
The classification of a defect as isolated or syn- of the child. So a proper pediatric-genetic follow-
dromic could not be so easy and quick. Usually up is strongly recommended in order to confirm
hand anomalies are diagnosed at birth, even if the classification of the hand defect as isolated.
sometimes the ultrasound studies during preg- Growth and developmental data and somatic and
nancy could have generated some doubts. It’s medical evolution are paramount in order to
important to state that a complete evaluation of define the situation [2, 3].
the phenotype is possible only after birth; for this As we have said before, sometimes the diag-
reason, prenatal counseling should always be nosis could be made quite easily in the neonatal
very cautious because surprises are frequent. period, if the clinical data are enough expressed
In the neonatal period, we can have different and the experience of the clinician related to that
scenarios. In some situations, the clinical data are condition is high. Table 3.2 summarized some
already clear and absolutely convincing toward a examples of syndromes that can be diagnosed at
32 A. Selicorni et al.

Table 3.2 Possible gestaltic neonatal syndromic diagnosis

Syndrome Hand defect Associated anomalies Genetic defect
Apert Complete Craniostenosis dysmorphisms, Autosomal dominant FGFR2 mutation
syndrome syndactyly possible growth and
developmental anomalies
Cornelia de Limb reduction Peculiar dysmorphisms, Mutation in different gene of the cohesion
Lange defects, missing hirsutism pre- and postnatal family (NIPBL, SMC1A, SMC3, RAD 21,
syndrome fingers of ulnar growth retardation, psychomotor HDAC8, ANJRD11, BRD4) most genes
side retardation, intellectual follow an autosomal dominant inheritance,
disability some others X linked inheritance
VATER Radial ray defect Vertebral anomaly imperforate Unknown
association anus, esophageal athresia,
trachea esophageal fistula, heart
anomaly
Rubinstein– Large/bifid Peculiar dysmorphisms, Microdeletion 16p13.3, autosomal dominant
Taybi thumbs/hallux psychomotor delay, growth CREBP or EP300 gene mutation
syndrome retardation
Freeman– Hand contractures, Whistling face, other joints Autosomal dominant MYH3 gene mutation
Sheldon contractures (as in patient with
syndrome distal arthrogryposis)
Holt–Oram Monolateral radial Heart congenital defects, ECG Autosomal dominant TBX3 gene mutation
syndrome ray defect anomalies
Meckel– Postaxial Cystic renal disease, occipital Four different subtypes involving different
Gruber polydactyly encephalocele genes with autosomal recessive inheritance
syndrome
Fanconi Radial ray Multiple congenital defects, Heterogeneous disease with 19 genes
anemia deficiency increased risks to develop involved with autosomal recessive
hematologic and non-­ inheritance
hematologic neoplasia, bone Karyotype with DEB showing increased
marrow insufficiency chromosome fragility

birth in front of a hand anomaly. In these situa- 3.4.1 Amniotic Band Sequence
tions, nowadays the clinical hypothesis can fre-
quently be confirmed by specific genetic tests. Amniotic band sequence is a congenital limb dis-
Later the use and the limits of the genetic tests order with an extremely variable clinical presen-
will be discussed more in to details. tation. Its frequency is about 1 in 1200 live births.
It is characterized by the presence of partial to
complete, congenital, fibrous, circumferential,
3.4 Main Syndromic Conditions constriction bands/rings on any part of the body,
Associated with Hand with a particular predilection for the upper or
Anomalies lower extremities. Phenotypes range between a
mild skin indentation to complete amputation of
The number of syndromes associated with hand parts of the fetus (e.g. digits, distal limb); fusion
anomalies, also limiting the discussion to major of digits mimicking syndactyly can also be evi-
hand malformations, is extremely wide, so a dent. Classically, the damage of the extremities is
detailed discussion is impossible to be performed asymmetrical between different digits and differ-
in a short chapter. So we will briefly discuss some ent hands. This feature and constriction rings are
malformative/genetic conditions that must be the clues of the clinical diagnosis. The commonly
known because of their frequency and clinical accepted view is that amniotic band sequence
relevance.
3 Hand Defects: An Isolated Anomaly Or a Syndromic Disease? 33

occurs when the inner membrane (amnion) rup- with other associated manifestations. Most of
tures without injury to the outer membrane (cho- these conditions are due to the mutation of
rion), this exposes the baby to fibrous sticky FGFRs’ genes. The condition whose clinical
tissue (bands) from the ruptured amnion which diagnosis is easier is Apert syndrome. The
can float in the water of the uterus; these fibrous patients affected with this disease show cranio-
tissues can entangle the baby, reducing blood synostosis frequently of the coronal sutures giv-
supply and causing congenital abnormalities. In ing a acro-brachycephalic shape of the cranium.
some cases, a complete “natural” amputation of a The facial features are influenced by the cranium
digit(s) or limb may occur before birth or the anomalies. In particular, eyes are prominent due
digit(s) or limbs may be necrotic and require sur- to shallow orbits, midface is flat, palate is high
gical amputation following birth. No genetic test and arched, mandible is relatively prominent.
is indicated or required, because the diagnosis The hands and feets show skin and osseus fusion
can be simply done by clinical evaluation. This a that involves at minimum the second, third, and
classical nongenetic condition in which the prog- fourth ray but it can involve all the fingers. The
nosis of the newborn regarding growth and psy- patients have a growth in the lower part of normal
chomotor development is absolutely normal. curves. They can have some delays in psychomo-
Because of its environmental origin, the recur- tor development; mean IQ is 70 with a range
rence risk for the parents and for the child him- between 50 and 90. The children can manifest
self is not increased in comparison with general nutritional, respiratory and neurosurgery compli-
population [4]. cations that should actively monitored and
treated. The genetic defect is represented by
autosomal dominant mutation of FGFR2 gene
3.4.2 Poland Syndrome [6].
Pfeiffer syndrome is another common disease
Poland syndrome has an incidence of 1/20– belonging to this group. The core anomaly is
30,000 live births. Clinical diagnosis is made in localized to the hands and feet in which thumbs
neonatal period or later in patient with an asym- and hallux are large and medially deviated and in
metrical hypoplasia of pectoral muscles with which is evident skin syndactyly involving 2°–3°
possible involvement of the rib cage, associated fingers and toes (less frequently 3° and 4°).
with ipsilateral anomalies of the upper limb; According to the presence/severity of craniosyn-
more rarely the limb involvement can be bilat- ostosis are known three different subtypes: type 1
eral. In particular limb, anomalies can be variable with mild expression, good prognosis, and nor-
and can be characterized by shortness of fingers, mal intellectual development, type 2 with a more
syndactyly of hypoplastic fingers, global hypo- severe involvement, severe craniosynostosis and
plasia of the hand and of the forearm. Both worse prognosis and type 3 quite similar to type
growth and psychomotor development are usu- 2, without evidence of clover leaf skull. Mutation
ally normal. Up to now, no molecular anomaly of FRGFR1 (exon7) and FGFR2 (exons 8 and
has been discovered as a cause of Poland syn- 10) are the biological markers of the disease [7].
drome whose diagnosis is still only clinically Saethre–Chotzen syndrome is another disease
based [5]. of this group in which hand and feet anomalies
are evident. In particular, patients affected have
brachydactyly, because of shortness of terminal
3.4.3 Acrocephalosyndactylies phalanges and partial skin syndactyly of 2–3° fin-
gers less frequently 3–4°. Thumbs can be tripha-
Acrocephalosyndactyly syndromes represent a langeal. The feet hallux is large and it’s possible
group of inherited congenital malformation dis- to see skin syndactyly of toes. Together with
orders characterized by craniosynostosis and these anomalies, the patients show facial dysmor-
fusion or webbing of the fingers or toes, often phisms with asymmetric face, ptosis, strabismus,
34 A. Selicorni et al.

downslanting of palpebral fissures, hyper- mouth is classically evident an “H shape” skin

telorism, hypoplastic maxilla, high arched palate, fold. This combination of facial features is abso-
and peculiar ears. Craniosynostosis is not con- lutely specific for this disease and permits a
stantly present and can involve different sutures gestaltic diagnosis. Usually, the psychomotor
with variable severity. Physical growth and intel- development of these children is pretty normal
lectual development are usually normal except while weight growth can be slow because of
for patients with chromosomal microdeletions nutritional difficulties. Autosomal dominant
that can show intellectual disability. Genetic mutations of MYH3 gene are responsible of
defect involves autosomal dominant mutation or about 90% of the cases [9].
microdeletion of the TWIST gene on chromo-
some 7p21 [8].
Another common disease of this group is 3.4.5 Bardet–Biedl Syndrome
Crouzon syndrome in which classically no hands
and feet anomalies are present. Bardet–Biedl is a genetic syndrome character-
ized by the association between obesity, retinal
dystrophy, polydactyly, genital anomaly, hypo-
3.4.4 Arthrogryposis Multiplex gonadism, and renal defects.
Congenita Its prevalence is about 1/100,000–1/160,000
live births. The clinical diagnosis is made if a
Arthrogryposis multiplex congenital is a large proper combination of primary (major) and
and heterogeneous group of disorders character- secondary (minor) criteria are present: primary
ized by congenital limb contractures. It mani- features are retinal dystrophy, polydactyly,
fests as a limitation of movement of multiple obesity, learning disability, hypogonadism,
limb joints at birth that is usually nonprogressive renal and urinal tract anomalies. Secondary
and may include muscle weakness and fibrosis. criteria are the following: language delay, ocu-
Typically mothers of these children describe lar anomalies like cataracts strabismus, brachy-
decreased intrauterine fetal movement which dactyly or syndactyly, ataxia, mild spasticity in
leads secondarily to the contractures. The particular at lower limbs, diabetes, hepatic
reduced movements can have a neurologic basis fibrosis, and heart problems. Clinical diagnosis
(cerebral, spinal, or peripheral nerves involve- is possible when a patient shows four major
ment) a muscular basis (myasthenia gravis, mus- criteria or three major criteria and two minors.
cular dystrophies, and mitochondrial diseases) As regards hand polydactyly is often the first
or a connectival basis; a reduce intrauterine manifestation evident at birth. Usually is a
space can be responsible too. The incidence of postaxial polydactyly and is evident in70–80%
the syndromes with multiple contractures is of the cases. The variability is wide; from one
about 1/3000 live births. It’s easy to understand extremity to all four can be involved. The last
that it would be very long and complex to go into chance regards about 21% of patients. Feet are
details in this large chapter. Within this group, more frequently interested. Apart from psycho-
we identify a subgroup named distal arthrogry- motor problems, patients with Bardet Biedl
posis and in this category, we want to put our syndrome can evolve toward severe impair-
attention to one syndrome whose phenotype is ment of visual ability from the age of 15.
so typical to be recognized at birth. This is the Usually, first visual symptoms can be evident
case of Freeman–Sheldon syndrome in which the from 6 to 8 years of age. The syndrome has an
newborns show joints’ contractures as typical for autosomal recessive inheritance and about 20
distal arthrogryposis, associated with contrac- different genes can be involved, so molecular
tures of facial muscles causing a very little confirmation of a clinical diagnosis is hard-
mouth (whistling face). In the skin under the working and not always possible [10].
3 Hand Defects: An Isolated Anomaly Or a Syndromic Disease? 35

3.4.6 Fanconi Anemia 3.4.8 VATER/VACTERL Association

The disease is characterized by the association of VATER association is a complex malformative

progressive bone marrow insufficiency, increased condition characterized by a particular spectrum
risks of development of neoplasia, congenital of anomalies including: vertebral defect, imper-
defects and extreme toxicity to exposure to radia- forate anus, tracheo-esophageal fistula, esopha-
tions and chemotherapy drugs. Its incidence is geal atresia and renal/radial dysplasia. Later, the
about 1/160,000. Between the various possible observation of a high frequency of cardiac and
congenital defects, 50% of the patients have skel- limb anomalies in these patients permitted to
etal anomalies whose 70% involve upper limbs. modify the original acronym from VATER to
In particular, the thumbs can be absent, little, VACTERL. Its prevalence is between 1/20,000
bifid or triphalangeal. The radius can be short of and 1/40,000 newborns As regard limb anoma-
absent too and, in this case, ulna is short and lies, they are present in 40–50% of the affected
arched. The stature is short while psychomotor individuals. The most common defects are the
development can be delayed. As we have following: radial hypo/aplasia, thumb hypo/apla-
reported, there is an increased risk of hemato- sia preaxial polydactyly. VATER’s patients grow
logic and non-hematologic neoplasias. This normally and have a normal achievement of the
means that patients need to be followed properly common psychomotor milestones. Up to now, no
in order to early diagnose possible tumors. The specific genetic defect has been discovered as
syndrome has a genetic basis and an autosomal associated with the disease whose diagnosis is
recessive etiology. That means that recurrence still now only clinical. No formally defined clini-
risk is 25% for an healthy couple of parents of an cal criteria are available. Hall suggested that clin-
affected child. About 19 genes have been related ical diagnosis can be acceptable if the patient has
to the syndrome. A screening test is represented an anomaly in all three regions of the body
by cytogenetic analysis with DEB exposure in (limbs, thorax, and inferior abdominal region/
order to show an increased chromosomal fragil- pelvis). Other authors believe that esophageal
ity [11]. and anal defects are mandatory in order to con-
sider this diagnosis [13].

3.4.7 Holt–Oram Syndrome

3.4.9 Oro-Facio-Digital Syndromes
Holt–Oram is a rare syndrome characterized by
the association of preaxial limb defect and heart Oro-facio-digital syndromes refer to numerous
anomalies. Its prevalence is 1/100,000 newborns. conditions in which major or minor anomalies
At upper limb, it’s possible to diagnose various can be evident at the oral cavity (mouth, tongue,
types of malformations: absent thumbs, tripha- teeth, and jaw), facial structures (head, eyes, and
langeal thumbs, phocomelia, radial hypo/aplasia, nose), and digits (fingers and toes). Association
carpal bone anomalies, abnormal elbow move- with major problems in different organs or appa-
ments, possible anomalies at clavicles and scap- ratus are described. The literature reports up to 17
ula. In total, 75% of patients have heart problems; types of oro-facio-digital syndrome, but research
60% of them show an interatrial defect, 30% is necessary to confirm and clarify all of these
have interventricular muscular defect. Other types. Hands involvement is usually character-
heart malformations have been described. In ized by brachydactyly, syndactyly, or preaxial
total, 40% of patients have an ECG anomaly also polydactyly. The prognosis and the severity of
in absence of a cardiac malformation. Growth the disease are very variable between different
and psychomotor development are usually nor- types. For most of them the exact genetic basis of
mal. In total, 70% of affected children show auto- the condition is unknown; the pattern of inheri-
somal dominant mutation of TBX5 gene [12]. tance is different in the various subtypes [14].
36 A. Selicorni et al.

3.4.10 Cornelia de Lange Syndrome ability; growth can be reduced, especially in the
first years of life, also if some of these children
Cornelia de Lange syndrome, or as recently stated can evolve toward overweight/obesity in preado-
Cornelia de Lange spectrum, refers to a phenotype lescent/adolescent age. The genetic basis of the
characterized by quite typical facial dysmor- syndrome is heterogeneous. Some patients can
phisms, hirsutism, intrauterine and postnatal show a microdeletion of the short arm of chromo-
growth retardation, psychomotor delay, and intel- some 16 (16p11.2), the majority has an autoso-
lectual disability of different severity. The preva- mal dominant mutation in CREBP gene (localized
lence of the condition is from 1/10,000 to 1/30000 in the 16p11.2 region) and lastly a minority of
live births. About 1/3 of patients can show limb individuals have an autosomal dominant muta-
malformation mostly at upper limb. The defect is tion of EP300 gene. Somatic mosaicism has been
quite variable and can splurge from severe limb observed in Rubinstein Taybi patients too [16].
reduction anomalies toward the absence of various
fingers typically of ulnar side. Some patients can
show a combination of reduction defects in one 3.4.12 Smith–Lemli–Opitz Syndrome
hand and postaxial polydactyly in the contralateral
hand. Genetic basis is very complex and heteroge- Smith–Lemli–Opitz syndrome is a disease of
neous and refers to possible mutations in genes of cholesterol metabolism associated with multiple
the cohesion complex. However, it’s important to congenital anomalies caused by a deficiency of
state that patients with major limb involvement 7-dehydro-cholesterol reductase enzyme (7DHC)
usually show mutation in only one gene (NIPBL) which is important into conversion of 7DHC to
which is responsible for about 60–65% of the cholesterol. Its prevalence is 1/20,000–1/40,000
genetic defects and correlates with the more clas- live births. The main clinical problems are facial
sical phenotype. It should be remembered that in a dysmorphisms, prenatal and postnatal growth
significant amount of patients, also with a quite retardation, microcephaly, psychomotor retarda-
classical phenotype, the molecular defects cannot tion and intellectual disability of moderate severe
be evidenced on blood lymphocyte but it’s neces- degree and multiple malformations (cleft palate,
sary to test another tissue (usually cells obtained heart anomalies, central nervous system defects,
from oral mucosa brush). This phenomenon is ambiguous genitalia hypoplastic penis, and hypo-
named somatic mosaicism [15]. spadias). At the extremities, postaxial polydac-
tyly and peculiar 2–3° toes syndactyly (Y shaped)
are evident. Clinical hypothesis can be confirmed
3.4.11 Rubinstein–Taybi Syndrome with the dosage of serum 7DHC or 8DHC which
are abnormally high in front of a cholesterol con-
Rubinstein–Taybi syndrome is characterized by centration quite low. Molecular study of the gene
the association of typical facial dysmorphisms, coding for the defective enzyme is another way to
psychomotor delay/intellectual disability, and confirm the diagnosis. The disease has an autoso-
peculiar shape of thumbs and hallux. Its preva- mal recessive pattern of inheritance, so diagnosis
lence at birth is 1/100,000–1/125,000. The eyes is extremely important for a proper genetic coun-
and nasal region are the hallmarks of this condi- seling for further pregnancies [17].
tion regards facial dysmorphisms. Thumbs and
halluxs are classically large and in 1/3 of patients
deviated (varism or valgism). Sometimes they 3.4.13 Greig Syndrome
can be also bifid or duplicated (preaxial polydac-
tyly). Occasionally, a postaxial polydactyly of Greig cephalopolysyndactyly syndrome is char-
feet can be observed. acterized by macrocephaly, preaxial polydac-
As stated, patients with Rubinstein Taybi syn- tyly or mixed pre- and postaxial polydactyly,
drome have a variable degree of intellectual dis- and widely spaced eyes. Mildly affected patients
3 Hand Defects: An Isolated Anomaly Or a Syndromic Disease? 37

may have subtle craniofacial findings. Greig Table 3.3 Syndromes with preaxial polydactyly
syndrome is part of a clinical spectrum whose Biemond syndrome
mild spectrum is represented by preaxial poly- Brachio–Oculo facial syndrome
syndactyly type IV and crossed polydactyly Cranio Fronto nasal dysplasia
(preaxial polydactyly of the feet and postaxial Fanconi anemia
Fetal-alcohol syndrome
polydactyly of the hands plus syndactyly of fin-
Goltz syndrome
gers 3–4 and toes 1–3). Individuals with classi- Greig syndrome
cal form can have seizures, hydrocephalus, and Hydrocephalus syndrome
intellectual disability, but this covers only 10% Jeune syndrome
of patients. The diagnosis of Greig syndrome is Kaufmann–Mckusick syndrome
based on clinical findings and family history. Larsen syndrome
The molecular basis of the disease is repre- Meckel–Gruber syndrome
Nager syndrome
sented by GLI3 gene anomalies. They can be a
Oro-facio-digital syndrome
deletion involving GLI3 gene (7p14.1 region) or Short rib polydactyly syndrome
a pathogenetic dominant mutation of the gene Robinow syndrome
sequence itself. The detection rate of genetic VATER association
tests is about 75% [18].

Table 3.4 Syndromes associated with postaxial

polydactyly
3.4.14 EEC Syndrome
Acro-callosal syndrome
Acrocephalopolysyndactyly
EEC syndrome is an acronym for Ectrodactyly-­ Bardet–Biedl syndrome
Ectodermal Dysplasia-Cleft Lip/Palate. It is a Biemond syndrome
rare form of ectodermal dysplasia. The symp- Carpenter syndrome
toms can be variable and most commonly refers Craniofrontonasal dysplasia
to hand/feet malformation (ectrodactyly or split Ellis–Van Creveld syndrome
hand/foot malformation), ectodermal dysplasia Fetal–Valproate syndrome
Goltz syndrome
symptoms (with hair and glands anomalies), and
Greig syndrome
cleft lip and/or palate. Other frequent features are Holt–Oram syndrome
distinctive facial features, eyes and urinary tract Hydrolethalus syndrome
anomalies EEC syndrome is inherited with an Jeune syndrome
autosomal dominant pattern. More than 90% of Joubert syndrome
individuals have mutations in the TP63 gene Kaufman–Mckusick syndrome
(EEC type 3). Other individuals with EEC syn- Pallister–Killian syndrome
Maternal diabetes syndrome
drome are thought to have a mutation in a region
Orofaciodigital syndromes
on chromosome 7 (EEC1) [19]. Pallister–Hall syndrome
Schinzel–Giedion syndrome
Short rib polydactyly syndrome
3.5 Differential Diagnosis Simpson–Golabi–Behmel syndrome
According Types of Hand Smith–Lemli–Opitz syndrome
Defect Young–Simpson syndrome

In Tables 3.3, 3.4, 3.5, 3.6, and 3.7 we summarize

the main syndromes that should be considered in use databases of free access (Orphanet) or afford-
differential diagnosis in front of a particular able (Oxford Medical database, POSSUM) that
major anomaly of the hands. Of course, the lists can help clinicians to generate a list of possible
are not exhaustive but can be useful for a first diagnosis starting from clinical features (major
approach. As it’s well known it’s now possible to and minor) of the patient [20].
38 A. Selicorni et al.

Table 3.6 Syndromes associated with absent/hypoplas- next step was the discovery of molecular cytoge-
tic thumb netic with FISH (fluorescent in situ hybridiza-
Aase syndrome tion) study. Thank to this approach, there was the
Acrorenal syndrome possibility of showing more little deletions/dupli-
Brachio-oculo-facial syndrome
cations in specifically related chromosomal
Fanconi anemia
Feingold syndrome
regions to confirm the suspicion of defined syn-
Fetal alcohol syndrome dromes or, later on, to search for abnormalities in
Holt–Oram syndrome the terminal part of chromosomes (telomeres) in
LADD syndrome very complex children with a so-called “chromo-
Lenz syndrome somal phenotype.” At gene level, it was growing
Maternal diabetes syndrome the availability of tests able to identify mutation
Nager syndrome
in single gene considered to be the cause of spe-
Rothmund–Thompsen syndrome
cific disease [21].
Smith–Lemli–Opitz syndrome
VATER association The first revolution was related to the intro-
Yunis–Varon syndrome duction in clinical practice of the array CGH
technology. Thank to this new approach, com-
pletely different from cytogenetics from a meth-
Table 3.5 Syndromes associated mesoaxial polydactyly odological point of view, it has become possible
Ellis–van Creveld syndrome to detect deletion or duplication of very low size
Holt–Oram syndrome (hundreds of bases instead of millions of bases)
Kaufman–Mckusick syndrome extremely increasing the number of patients in
Orofaciodigital syndromes whom an abnormality has been detected. This
Robinow syndrome
technology has now taken the place of the old
Pallister–Hall syndrome
standard karyotype as first-level cytogenetic
approach. The side effect of array CGH imple-
mentation is the discovery of a great number of
Table 3.7 Syndromes associated with triphalangeal variants (both deletion or duplication) which are
thumb absolutely benign or for which is not possible to
Aase syndrome define for sure the real meaning (named
Fanconi anemia VOUS = variant of unknown significance). This
Fetal hydantoin syndrome means that the correct interpretation of the results
Holt–Oram syndrome
of an arrayCGH study needs a specific and very
LADD syndrome
Nager syndrome specialist competence [21].
Townes syndrome At molecular level during the last few years, it
has become clear that genetic basis of the great
majority of the genetic syndromes is highly het-
3.5.1 The New Genetic Tests erogeneous. For a lot of syndromes in fact, the
and Their Use number of genes, whose mutations were related
in the Diagnostic Process to that phenotype, has been increasing months
after months. This situation created difficulty in
Genetic tests are changing, increasing the possi- performing complete molecular study of patients
bility of testing and modifying the approach to suspected to be affected by a highly heteroge-
the diagnosis. Up to 10 years ago, the geneticist neous disease. The last revolution was so related
had few opportunities to use genetic tests to con- to the introduction of a new approach in sequenc-
firm a clinical diagnosis. It was possible to evalu- ing technology named NGS (next-generation
ate the number of chromosomes and their general sequencing) [21]. Thank to this approach it was
structure with the possibility of detecting dele- possible to study at the same time hundreds and
tion or duplication with 5–10 Mb of size. The hundreds of genes selecting their really important
3 Hand Defects: An Isolated Anomaly Or a Syndromic Disease? 39

part: the exons, the coding part of every gene. In of different cohorts of patients report a detection
this way, we are able to study in a single experi- rate from 30% to 50%. Moreover, this technology
ment all the genes related to a specific syndrome, demonstrated to be very cost-effective. Economic
all the known genes related to a specific problem studies showed that the cost of this new analysis
(the so-called genetic panels), all the exons of the is absolutely lower than that of the various single
known genes (named clinical exome) all the genetic tests performed by patients without hav-
exons of our genome (WES = Whole exome ing a significant result [23, 24].
sequencing) [22]. Table 3.8 summarizes these For this reason, some authors suggested a new
definitions. Thank to this new approach the time methodological approach to the child with mul-
necessary to study at the molecular level a single tiple congenital defects which is shown in
patient greatly decreased. In addition, this Fig. 3.2. If the clinician has a reasonable clinical
approach has improved tremendously the possi- hypothesis, it’s important to search the confirma-
bility to reach a diagnosis in very complex chil- tion with usual genetic tests. If a good hypothesis
dren affected by the so-called “ultra rare is lacking, it’s better to use the new technology
diseases”; a lot of papers describing the analysis (array CGH and WES in sequence) instead of
wasting time in performing genetic tests with few
possibilities to reach the goal. As for array CGH,
Table 3.8 the new various possibility available thank to the more we know the more we can have doubts.
NGS technology
Also a WES study can generate results with
Genetic Analysis of the exons of all the genes unknown or hardly interpretable meaning; for
panels related to an heterogeneous syndrome
(e.g. Bardet–Biedl syndrome) or related this reason, this kind of tests need to be managed
to a specific clinical problem (epilepsy) by expert geneticists [25–27].
Clinical Analysis of the exons of all the known What is important to understand is that with
exome genes this approach, the physician’s role is no less
Whole-exome Analysis of all the exons of our genome
important than in the past. A very deep and
sequencing
Whole-­ Analysis of all the exons and introns of detailed clinical analysis is extremely important
genome our genome in order to accurately define the phenotype of the
sequencing patient and in order to compare it with the pheno-

Clinical genec evaluaon

- Review records/family and perosnal
history
- Physical examinaon
- Search for associated anomalies

- Phenotype suggesve - Complex phenotype not - Clinical presentaon not

for a specific clinical suggesve for a specific consistent with a
diagnosis (gestalt diagnosis genec disorder
diagnosis) - Genec disorder higly
heterogeneous or for which
no genec defect has been
defined

neg Chromosome Clinical follow-up

TARGETED TESTING:
- Single gene microarray
- Genec panel
- Methylaon test
- FISH study
- Karyotype NGS

Fig. 3.2 New methodological approach to a child with multiple congenital defects
40 A. Selicorni et al.

type of patients which show a specific genetic anomalies in VACTERL association. J Med Genet.
defect. Whereas in the past the clinician’s task 2016;53:431–7.
14. Dave KV, Patel SC, Dudhia BB, Panja P. Orofacial dig-
was only to suggest a possible clinical diagnosis ital syndrome. Indian J Dent Res. 2013;24(1):132–5.
and seek the confirmation with genetic testing, 15. Kline AD, Moss JF, Selicorni A, Bisgaard AM,
the new technology has added a new role: to con- Deardorff MA, Gillett PM, Ishman SL, Kerr LM,
firm that a specific genotype suggested by array- Levin AV, Mulder PA, Ramos FJ, Wierzba J, Ajmone
PF, Axtell D, Blagowidow N, Cereda A, Costantino A,
CGH or WES may be the correct explanation for Cormier-Daire V, FitzPatrick D, Grados M, Groves L,
the patient’s phenotype. Guthrie W, Huisman S, Kaiser FJ, Koekkoek G, Levis
M, Mariani M, McCleery JP, Menke LA, Metrena
A, O’Connor J, Oliver C, Pie J, Piening S, Potter
CJ, Quaglio AL, Redeker E, Richman D, Rigamonti
References C, Shi A, Tümer Z, Van Balkom IDC, Hennekam
RC. Diagnosis and management of Cornelia de Lange
1. Rasmussen SA, Olney RS, Holmes LB, Lin AE, syndrome: first international consensus statement.
Keppler-Noreuil KM, Moore CA, National Birth Nat Rev Genet. 2018;19:649.
Defects Prevention Study. Guidelines for case clas- 16. Hennekam RC. Rubinstein-Taybi syndrome. Eur J
sification for the National Birth Defects Prevention Hum Genet. 2009;14(9):981–5.
Study. Birth Defects Res A Clin Mol Teratol. 17. Nowaczyk MJ, Irons MB. Smith-Lemli-Opitz
2003;67:193–201. syndrome: phenotype, natural history, and epide-
2. Solomon BD, Muenke M. When to suspect a genetic miology. Am J Med Genet C Semin Med Genet.
syndrome. Am Fam Physician. 2012;86:826–33. 2012;160C(4):250–62.
3. Dy CJ, Swarup I, Daluiski A. Embryology, diagnosis, 18. Biesecker LG. The Greig cephalopolysyndactyly syn-
and evaluation of congenital hand anomalies. Curr drome. Orphanet J Rare Dis. 2008;24:3–10.
Rev Musculoskelet Med. 2014;7:60–7. 19. Okamoto N. Ectodactyly-ectodermal dysplasia-­
4. Durga R, Renukadevi TK. Amniotic band syn- clefting syndrome. Ryoikibetsu Shokogun Shirizu.
drome – a dreaded condition. J Clin Diagn Res. 2001;33:615–7.
2016;10:QD04–5. 20. Ahmed H, Akbari H, Emami A, Akbari MR. Genetic
5. Moir CR, Johnson CH. Poland’s syndrome. Semin overview of syndactyly and polydactyly. Plast
Pediatr Surg. 2008;17:161–6. Reconstr Surg Glob Open. 2017;5(11):e1549.
6. Kumar GR, Jyothsna M, Ahmed SB, Sree Lakshmi 21. Durmaz AA, Karaca E, Demkow U, Toruner G,
KR. Apert’s Syndrome. Int J Clin Pediatr Dent. Schoumans J, Cogulu O. Evolution of genetic tech-
2014;7:69–72. niques: past, present, and beyond. Biomed Res Int.
7. Vogels A, Fryns JP. Pfeiffer syndrome. Orphanet J 2015;2015:461524.
Rare Dis. 2006;1:19. 22. Lee H, Deignan JL, Dorrani N, Strom SP, Kantarci S,
8. Kress W, Schropp C, Lieb G, Petersen B, Büsse-­ Quintero-Rivera F, Das K, Toy T, Harry B, Yourshaw
Ratzka M, Kunz J, Reinhart E, Schäfer WD, Sold J, M, Fox M, Fogel BL, Martinez-Agosto JA, Wong DA,
Hoppe F, Pahnke J, Trusen A, Sörensen N, Krauss J, Chang VY, Shieh PB, Palmer CG, Dipple KM, Grody
Collmann H. Saethre-Chotzen syndrome caused by WW, Vilain E, Nelson SF. Clinical exome sequencing
TWIST 1 gene mutations: functional differentiation for genetic identification of rare Mendelian disorders.
from Muenke coronal synostosis syndrome. Eur J JAMA. 2014;312:1880–7.
Hum Genet. 2006;14:39–48. 23. Valencia CA, Husami A, Holle J, Johnson JA, Qian
9. Gurjar V, Parushetti A, Gurjar M. Freeman-sheldon Y, Mathur A, Wei C, Indugula SR, Zou F, Meng H,
syndrome presenting with microstomia: a case Wang L, Li X, Fisher R, Tan T, Hogart Begtrup A,
report and literature review. J Maxillofac Oral Surg. Collins K, Wusik KA, Neilson D, Burrow T, Schorry
2013;12(4):395–9. E, Hopkin R, Keddache M, Harley JB, Kaufman KM,
10. Forsythe E, Beales PL. Bardet-Biedl syndrome. Eur J Zhang K. Clinical impact and cost-effectiveness of
Hum Genet. 2013;21(1):8–13. whole-­exome sequencing as a diagnostic tool: a pedi-
11. Mehta PA, Tolar J. Fanconi anemia. [updated 2018]. atric center’s experience. Front Pediatr. 2015;3:67.
GeneReviews® [Internet]. Seattle, WA: University of 24. Monroe GR, Frederix GW, Savelberg SM, de Vries TI,
Washington, Seattle; 2002. p. 1993–2018. Duran KJ, van der Smagt JJ, Terhal PA, van Hasselt
12. Krauser AF, Schury MP. Holt Oram syndrome P, Kroes HY, Verhoeven-Duif NM, Nijman IJ, Carbo
StatPearls [Internet]. Treasure Island, FL: StatPearls EC, van Gassen KL, Knoers NV, Hövels AM, van
Publishing; 2018. Haelst MM, Visser G, van Haaften G. Effectiveness of
13. Chen Y, Liu Z, Chen J, Zuo Y, Liu S, Chen W, Liu whole-exome sequencing and costs of the traditional
G, Qiu G, Giampietro PF, Wu N, Wu Z. The genetic diagnostic trajectory in children with intellectual dis-
landscape and clinical implications of vertebral ability. Genet Med. 2016;18:949–56.
3 Hand Defects: An Isolated Anomaly Or a Syndromic Disease? 41

25. Stark Z, Tan TY, Chong B, Brett GR, Yap P, Walsh with suspected monogenic disorders. Genet Med.
M, Yeung A, Peters H, Mordaunt D, Cowie S, Amor 2016;18:1090–6.
DJ, Savarirayan R, McGillivray G, Downie L, Ekert 26. Levenson D. Whole-exome sequencing strategy pro-
PG, Theda C, James PA, Yaplito-Lee J, Ryan MM, posed as first-line test. Am J Med Genet. 2016:1387–8.
Leventer RJ, Creed E, Macciocca I, Bell KM, Oshlack 27. Thevenon J, Duffourd Y, Masurel-Paulet A. Diagnostic
A, Sadedin S, Georgeson P, Anderson C, Thorne odyssey in severe neurodevelopmental disorders:
N, Melbourne Genomics Health Alliance, Gaff C, toward clinical whole-exome sequencing as a first-­
White SM. A prospective evaluation of whole-exome line diagnostic test. Clin Genet. 2016;89:700–7.
sequencing as a first-tier molecular test in infants
 Paediatric Trigger Finger
4
Chiara Novelli and Giorgio Pajardi

Abstract Keywords

Paediatric trigger thumb and trigger finger Congenital trigger · Trigger finger · Trigger
represent distinct conditions and should not thumb · Splinting
be treated like adult-acquired trigger finger.
Paediatric trigger thumb presents not at birth
but early in childhood. Recently, our under- Trigger thumb is one of the most common paedi-
standing of the pathophysiology of paediatric atric hand conditions and responds universally to
trigger thumb and paediatric trigger finger simple surgical release; however, trigger fingers
has improved leading to a better understand- are more complex, often owing to systemic con-
ing of the problem and of its treatment. ditions or anatomical abnormalities, and require
Paediatric trigger thumb may spontaneously consequently a wide and ample treatment.
resolve with splint, although in several years. Paediatric trigger thumb is a common condi-
Open surgical release of the A1 pulley of the tion. The reported specific incidence has
thumb is an alternative option that nearly increased from one in 2000 new-borns two
uniformly restores thumb interphalangeal decades ago to 3.3 in 1000 in a recent report [1].
joint motion. Paediatric trigger finger usually It often presents in children at about 24 months,
requires surgical approach; isolated release but can occur earlier, some times at about
of the A1 pulley has been associated with 6 months, or later. Reports of siblings and twins
high recurrence rates. Awareness of the ana- with trigger thumbs are common and some
tomic factors that may contribute to trigger- patients report a positive family history, which
ing in the paediatric finger and willingness to suggests a possible genetic predisposition [2, 3].
explore and address other involved compo- The aetiology of trigger thumb in children
nents of the flexor mechanism can prevent remains uncertain. The main accredited hypoth-
surgical failure. esis is that there is an anatomical mismatch
between the diameter of the tendon sheath and
the diameter of the flexor pollicis longus (FPL)
tendon.
C. Novelli (*) ∙ G. Pajardi Khoshhal et al. [4] examined specimens from
Department of Hand Surgery and Rehabilitation, the A1 pulley of children who had undergone
S. Giuseppe Hospital IRCCS MultiMedica,
trigger thumb release and found both myofibro-
Milan University, Milan, Italy
e-mail: [Link]@[Link]; blasts and cyto-contractile proteins (vimentin and
gpajardi@[Link] a-smooth muscle actin). The authors suggested

© Springer Nature Switzerland AG 2023 43

G. Pajardi (ed.), Pediatric Hand Surgery, [Link]
44 C. Novelli and G. Pajardi

from these findings that trigger thumbs result The differential diagnosis of trigger thumb
from a developmental fibrous tissue proliferation includes congenital clasped thumb and thumb-in-­
at the A1 pulley. A recent ultrasound study of palm deformity resulting from cerebral palsy or
children with trigger thumbs demonstrated no arthrogryposis, even if in expert eyes the clinical
abnormalities of the FPL tendon or the A1 pulley, conditions are completely different. The single
but confirm the size mismatch between the cross- congenital condition that could really mimic trig-
sectional area of the tendon compared with that ger finger is congenital absence of extensor pol-
of the pulley [5]. licis longus, condition that presents with a IPJ
The condition normally presents with a fixed flexion, but this last case presents no dorsal crease
flexed thumb interphalangeal joint (IPJ), with the in the IPJ, and no Notta nodule.
presence of a small nodule on the volar face of Regarding to treatment there’s no uniqueness
the metacarpo-phalangeal joint (MPJ), Notta direction.
nodule (Fig. 4.1). Sometimes it is possible to find Normally instructions vary from a first period
some cases in which thumb is fixed in extended of 3 to 6 months of splinting to open surgical
position, with impossibility to reach IPJ flexion; release in cases of splinting failure.
normally these are cases in which, when the baby Exploring the literature [6] some authors sug-
performs the full flexion, he feels discomfort so gested that all the therapeutic attitudes could be
he avoids any movement. considered correct and could in some way lead to
The relatives find the condition accidentally problem resolution. They analyze results of sim-
because the triggering is painless. In the first ple observation, versus stretching and exercises,
phases often, babies resolve themselves the trig- versus night splinting with or without daily exer-
gering, being able to play and to be completely cises versus open surgery, and find out that all the
autonomous; even later when the finger is fixed in series lead in some way to different percentage of
flexion it does not produce any functional limita- clinical resolution, evidently in different periods
tion, but babies show to relatives the ‘strange of time treatment.
condition’. Anyway investigating correctly the data, it is
Sometimes it is supposed to be the result of a evident that splinting or observations or stretch-
trauma or of a subluxation, but normal radio- ing leads to a complete resolution preferentially
grams and ultrasound exclude it. Moreover, the in mild cases, and normally resolution is obtained
presence of Notta nodule is diriment. But more with longer treatments.
often relatives discover the condition after a light On the contrary, open surgery leads in the
trauma because they focus for the first time on majority of cases to percentage of high recovery
their baby’s thumb. in a shorter time with really low or none rate of
complications. In sight of this consideration, our
conduct begins with correct information of the
relatives on all the possibilities, and with sugges-
tion of an initial period of night splinting and in
cases of incomplete recovery the purpose of open
surgical release.
Normally relatives accept willingly the period
of orthesis to try to have a simple way towards
resolution. Anyway usually, due to little compli-
ance of the babies and to prospective of really
long treatments, relatives usually switches hap-
pily to a surgical solution.
Surgery is quite simple, it could be performed
under slight sedation and local anaesthesia. It
Fig. 4.1 “Notta’s” nodule in paediatric trigger thumb provides a small transversal incision at the MPJ
4 Paediatric Trigger Finger 45

all thumbs with IP joint hyperextension in 6, no

recurrences and no digital nerve injuries [7].
A total of 79 families returned questionnaires
at an average of 4 years after their children’s sur-
gery. Ninety-nine percent of parents who
responded to the survey would recommend the
surgery for other children with trigger thumbs.
Recurrence of paediatric trigger thumb after
open release is negligible provided that the
release is complete at the time of surgery.
Moreover, surgical release can lead to good
outcomes even several years after the presenta-
tion as literature reported [8].
Fig. 4.3 Surgical procedure for thumb a1 pulley release
A potential complication is injury to the radial
digital nerve during surgical dissection. Careful
placement of the incision and careful dissection
render this evenience really minimal.

4.1 Trigger Finger

Paediatric, or congenital, trigger finger, presents

as a digit, other than the thumb, that locks in
flexion.
As paediatric trigger thumb, although
described as congenital by some authors, there
are no clear records of this condition being pres-
Fig. 4.2 Surgical procedure for thumb a1 pulley release ent at birth [9, 10]. It has been reported as pre-
senting between the ages of 3 weeks and 11 yrs
volar surface of the thumb, the identification of [11]. Many papers suggest the pathological cause
the tight A1 pulley and its surgical release is due to anatomic anomalies but this does make
(Figs. 4.2 and 4.3). Often it is possible to identify it hard to explain why the condition presents with
the Notta nodule, but once the pulley is open no a delay and not at birth.
procedures are required on the nodule. The management of this condition has varied
Immediately after the complete pulley releases, from conservative splinting [12, 13] to operative
the finger shows complete extension of IPJ. exploration and correction of the offending struc-
Regarding outcomes, a systematic review of tures [11, 14, 15].
outcomes reported on 17 retrospective studies There is no really clear literature on out-
and 1 prospective study of trigger thumb treat- comes of splinting in trigger finger due to the
ments. The authors found full IP joint motion fact that literature compares often conservative
reported in 95% of patients treated surgically, treatment of series of trigger thumb and trigger
67% treated with orthesis and 55% treated with finger together, rendering not pure the analisis
exercise and concluded that open surgery yields [9, 12, 16].
the most reliable outcomes [6]. What is clear from literature [14], is that aeti-
A recent large retrospective review of 173 ology of congenital trigger finger is different
consecutive patients treated with surgical release from congenital trigger thumb and adults’ condi-
of trigger thumb demonstrated full extension in tion. It is reported that anatomic mechanical con-
46 C. Novelli and G. Pajardi

dition such as mutual relationships among flexor

digitorum profundus (FDP) and flexor digitorum
superficialis (FDS), or anatomical anomalies of
pulleys causes and sustains the triggering. So that
the application of the operative principles applied
in paediatric trigger thumb and adult trigger fin-
ger consisting in releasing of the A1 pulley only
could lead to insufficient results.
Children who present with trigger fingers
could have an underlying condition responsible
for the triggering. Triggering has been associated
with mucopolysaccharidosis, juvenile rheuma-
toid arthritis, Ehlers–Danlos syndrome, down
syndrome and central nervous system disorders
such as delayed motor development [14, 17–19].
In addition to generalized syndromes, which
should be checked in the diagnostic pathway,
there are multiple anatomic anomalies that have
been described as causes of the pathology. The
predisposing anatomic problem can either be
overcrowding of the contents of the sheath or a
narrow pulley system. These anatomical condi-
tions could be widely listed below:

• Tendon structural anomaly (Nodule on FDS/

FDP; Widening of FDS/FDP).
• Abnormal relationship between FDS/FDP
(Decussation of the FDS proximal to A1 pul-
ley; Aberrant attachments between FDS/FDP;
FDS ulnar or radial slip abnormality; aberrant Fig. 4.4 Clinical condition of paediatric trigger digits
lumbrical muscles such as insertion of the
lumbrical into the FDS). allows the possibility to have a complete view of
• Thickening or stenosis of the pulley system the flexor apparatus; either tendon structures and
(A1; A2; A3). pulley system must be carefully analized or trig-
gering must be evocated during surgery in order
In view of these findings, surgery is quite to be sure that the procedure undertaken has
often indicated and a step-wise approach through eliminated each possible cause of tendon friction
a Bruner’s incision is therefore necessary. (Figs. 4.4, 4.5, and 4.6).
Surgery could be performed under a soft seda- Some authors have suggested an algorithm
tion and local anaesthesia. The surgical approach that should be used during surgery in order to
4 Paediatric Trigger Finger 47

Fig. 4.6 Intraoperatory findings: FDS intratendinous

cysts

Intra-operative findings will dictate the extent

of surgical exposure and which structures need
Fig. 4.5 Intraoperatory findings: surgical approcach release or correction.

explore and test all the possible conditions References

involved in triggering and to release them mini-
mizing all the possibility of recurrences. 1. Kikuchi N, Ogino T. Incidence and development
Literature focusing on the operative manage- of trigger thumb in children. J Hand Surg Am.
2006;31(4):541–3.
ment of this condition, and focusing on paediatric
2. Slakey JB, Hennrikus WL. Acquired thumbflexion
trigger finger alone, [9–11, 14] has placed weight contracture in children: congenital trigger thumb. J
on three factors (1) conservative management is Bone Joint Surg Br. 1996;78(3):481–3.
unlikely to work in the long-term as this is an 3. Shim VC, Admire AA, Heidenreich RA, Samimi
KJ. Autosomal dominant inheritance pattern for trig-
anatomic problem; (2) unlike paediatric trigger
ger thumb. Plast Reconstr Surg. 2002;109(1):240–1.
thumb and trigger finger in the adult population, 4. Khoshhal KI, Jarvis JG, Uhthoff HK. Congenital
release of the A1 pulley alone may not relieve trigger thumb in children: electron microscopy and
symptoms; and (3) a more extensive surgical immunohistochemical analysis of the first annular
pulley. J Pediatr Orthop B. 2012;21(4):295–9.
exposure is required and failure to recognize this
5. Verma M, Craig CL, DiPietro MA, et al. Serial ultra-
will lead to inadequate release with recurrence of sound evaluation of pediatric trigger thumb. J Pediatr
the condition. Orthop. 2013;33(3):309–13.
48 C. Novelli and G. Pajardi

6. Farr S, Grill F, Ganger R, Girsch W. Open surgery 13. Tsuyuguchi Y, Tada K, Kawaii H. Splint therapy for
versus nonoperative treatments for paediatric trig- trigger finger in children. Arch Phys Med Rehabil.
ger thumb: a systematic review. J Hand Surg Eur. 1983;64:75–6.
2014;39(7):719–26. 14. Tordai P, Engkvist O. Trigger fingers in children. J
7. Marek DJ, Fitoussi F, Bohn DC, Van Heest Hand Surg Am. 1999;24:1162–5.
AE. Surgical release of the pediatric trigger thumb. J 15. Steenwerckx A, De Smet L, Fabry G. Congenital trig-
Hand Surg Am. 2011;36(4):647–652.e2. ger digit. J Hand Surg Am. 1996;21:909–11.
8. Han SH, Yoon HK, Shin DE, Song DG. Trigger thumb in 16. Paaske BP, Søe-Nielsen NH, Noer HH. Release of
children: results of surgical treatment in children above trigger finger in children. Long term results. Scand J
5 years of age. J Pediatr Orthop. 2010;30(7):710–4. Plast Reconstr Surg Hand Surg. 1995;29:65–7.
9. Moon WN, Suh SW, Kim IC. Trigger digits in chil- 17. Cardon LJ, Ezaki M, Carter PR. Trigger finger in chil-
dren. J Hand Surg Br. 2001;26:11–2. dren. J Hand Surg Am. 1999;24(6):1156–61.
10. Rodgers WB, Waters PM. Incidence of trigger digits 18. Cheung JP, Fung BK, Mak KC, Leung KH. Multiple
in newborns. J Hand Surg Am. 1994;19:364–8. triggering in a girl with Ehlers-Danlos syndrome: case
11. Cardon LJ, Ezaki M, Carter PR. Trigger finger in chil- report. J Hand Surg Am. 2010;35(10):1675–7.
dren. J Hand Surg. 1999;24A:1156–61. 19. Van Heest AE, House J, Krivit W, Walker K. Surgical
12. Nemoto K, Nemoto T, Terada N, et al. Splint therapy treatment of carpal tunnel syndrome and trigger digits
for trigger thumb and finger in children. J Hand Surg in children with mucopolysaccharide storage disor-
Br. 1996;21:416–8. ders. J Hand Surg Am. 1998;23(2):236–43.
 Camptodactyly
5
Chiara Parolo, Elisa Rosanda, and Giorgio Pajardi

Abstract Surgery should be reserved for patients

with a preoperative PIP joint contracture of
Camptodactyly is a relatively rare hand anom-
more than 60°.
aly that involves varying degrees of congenital
or acquired flexion contracture of the fingers
Keywords
at the proximal interphalangeal (PIP) joint,
unilaterally or bilaterally. The cause of the Camptodactyly · Flexion contracture ·
deformity is obscure. Specific anatomic Stiffness · Flexion deformity · Hand anomaly
abnormalities have been implicated.
Camptodactyly can also be divided into sim-
ple and complex types. Simple camptodactyly Camptodactyly was first described by Tamplin in
consists only of the flexion deformity of the 1846 in his ‘Lectures on the Nature and Treatment
PIP joint, whereas in complex camptodactyly, of Deformities’ at the Royal Orthopaedic
there are also other deformities such as syn- Hospital, London. The term camptodactyly is of
dactyly or combinations of clinodactyly and Greek origin means ‘bent finger’ and was used by
camptodactyly. Treatment can be either con- Landouzy in 1906 to describe an irreducible flex-
servative, surgical or a combination regimen ion contracture affecting the proximal interpha-
in which only certain patients undergo sur- langeal (PIP) joints in young girls.
gery, depending on its clinical severity. Camptodactyly is a relatively rare hand anom-
Nonoperative treatment is favoured in most aly that involves varying degrees of congenital or
cases whereby the PIP contracture is less than acquired flexion contracture of the fingers at the
40 degrees, and it includes passive stretching proximal interphalangeal (PIP) joint, unilaterally
and splinting. Outcomes are variable but more or bilaterally (Fig. 5.1). The metacarpophalan-
favourable with early intervention. geal (MCP) and distal interphalangeal (DIP)
joints are not affected, although compensatory
deformities may develop. Involvement of either
C. Parolo (*) · E. Rosanda the distal interphalangeal joint or the metacarpo-
Milan, Italy phalangeal joint suggests a post-traumatic cause
e-mail: [Link]@[Link];
rather than camptodactyly. Likewise, camptodac-
[Link]@[Link]
tyly should not be confused with Kirner’s defor-
G. Pajardi
mity or with clinodactyly. Contractures may be
Department of Hand Surgery and Rehabilitation,
S. Giuseppe Hospital IRCCS MultiMedica, present at birth or develop in childhood or even
Milan University, Milan, Italy adulthood; they may be stationary or progressive.
e-mail: gpajardi@[Link]

© Springer Nature Switzerland AG 2023 49

G. Pajardi (ed.), Pediatric Hand Surgery, [Link]
50 C. Parolo et al.

Camptodactyly can have an early or late onset,

and it has been proven to show an autosomal
dominant pattern of inheritance with variable
expressivity and incomplete penetrance.

5.1 Pathogenesis

The cause of the deformity is obscure. Hereditary

factors, tuberculosis, rheumatoid disease and
Fig. 5.1 Camptodactyly ischemia have been cited in the literature.
Specific anatomic abnormalities have been
The fifth finger is most commonly involved implicated including abnormal lumbricals;
although the incidence decreases toward the abnormal (adherent, hypoplastic) flexor digito-
radial side of the hand. rum superficialis (FDS) insertion, which is often
Camptodactyly can occur independently or accompanied by subsequent or associated skin
have a syndromic association. Recently, several shortening; tight fascial bands; a deficient dor-
syndromes that include finger contractures sal central slip extensor mechanism; and
along with many other features have been given changes in the distal interphalangeal joint or
a primary designation of camptodactyly, which metacarpophalangeal joint. Todd stated that the
may be confusing. These include Tel Hashomer stiffness of the joint seemed to be entirely due to
camptodactyly syndrome (camptodactyly, dis- changes in the soft tissue parts and that the prin-
tinctive facial features, dermatoglyphic changes cipal contracture seemed to be in the capsule of
and musculoskeletal anomalies), which is inher- the joint. Oldfield also blamed the soft tissue on
ited in inbred Arab and Brazilian families in the flexor surface of the affected fingers. The
autosomal recessive manner; Guadalajara camp- FDS has been implicated as a significant factor
todactyly I (camptodactyly, intrauterine growth by Stoddard (abnormal shortness), Scott (tight
retardation, mental retardation, unusual facies flexor tendon under the skin), Herbert (slow
and musculoskeletal anomalies), which is inher- retraction of the flexor tendon) and Smith and
ited as an autosomal recessive; and Guadalajara Kaplan (contracture of FDS). McFarlane et al.
camptodactyly II (camptodactyly, intrauterine suggested that an abnormal lumbrical insertion
growth retardation, mental retardation, short is the major deforming force. Korean et al.
second toe and musculoskeletal changes), which believed that extensor mechanism anomalies are
is inherited as an autosomal recessive disorder. primary and the palmar manifestations of a tight
In addition, camptodactyly has been reported as FDS tendon and contractures of the palmar soft
a recessive disorder with ichthyosis, and as a tissue are secondary. Millesi believed that
dominant with scoliosis, with symphalangism abnormal development of the central slip and
and with brachydactyly. dorsal aponeurosis over the PIP joint was the
Camptodactyly is seen as a feature of more cause of flexion contracture deformity. The the-
than 50 conditions and is frequently associated ory of disturbed equilibrium between flexor and
with chromosomal anomalies. extensor forces has been accepted by Engber
The prevalence is less than 1% although De and Flatt, Koman et al. and Miura et al., although
Haas reported an incidence varying from 2 in the primary cause is still unclear. McCash
3000 to 58 in 239. The location is unilateral in pointed out three main factors: skin shortage on
33% of cases or bilateral in 66%. Bilateral camp- the volar side, congenital fibrous substrate pres-
todactyly can be either symmetric or asymmetric. ent beneath the skin and muscle imbalance.
5 Camptodactyly 51

5.2 Classification Table 5.2 Classification of Foucher

Classification
Camptodactyly has been divided into three cat- TYPE IA Early and stiff
egories (Table 5.1). A type I deformity is the TYPE IB Early and correctable
TYPE IIA Late and stiff
most common form and becomes apparent dur-
TYPE IIB Late and correctable
ing infancy. The deformity is usually an isolated TYPE III First ray camptodactyly
finding that is limited to the small finger. This TYPE IV Camptodactyly in Syndromes
‘congenital’ form affects males and females Goffin D, Lenoble E, Marin-Broun F, Foucher
equally. A type II deformity has similar clinical G. Camptodactylie: classification et résultats
features, although they are not apparent until thérapeutiques d’une sérle de 50 cas. Ann. Chir. Main
preadolescence. This ‘acquired’ form of camp- 20:13, 1994
todactyly develops between the ages of 7 and
11 years and affects females more than males. TYPE IB early presentation and passively cor-
This type of camptodactyly usually does not rectable flexion deformity.
improve spontaneously and may progress to a TYPE IIA late presentation and fix
severe flexion deformity. A type III deformity is contracture.
often a severe deformity that usually involves TYPE IIB late presentation and passively cor-
multiple digits of both extremities and is associ- rectable flexion deformity.
ated with a variety of syndromes. This ‘syn- TYPE III first ray camptodactyly.
dromic camptodactyly’ can occur in conjunction TYPE IV camptodactyly in syndromes.
with craniofacial disorders, short stature, and
chromosomal abnormalities.
Camptodactyly can also be divided into sim- 5.3 Clinical Exam
ple and complex types. Simple camptodactyly
consists only of the flexion deformity of the PIP Symptoms often go unnoticed, as usually only
joint, whereas in complex camptodactyly, there the small finger is affected and is very rarely
are also other deformities such as syndactyly or associated with any significant compromise in
combinations of clinodactyly and function.
camptodactyly. Camptodactyly is typically painless and with-
According to Foucher, camptodactyly can be out motor/sensory deficits. This condition often
classified as follows (Table 5.2). does not cause functional impairment, meaning
TYPE IA early presentation and fix that patients seek medical attention for concerns
contracture. relating to cosmesis.
The PIP joint is assessed for extension lag and
flexion contracture with the wrist in neutral posi-
Table 5.1 Benson classification of camptodactyly
tion. Extension lag is the maximum extension
Type Manifestation Description
measurement when performing active motion
I Congenital Apparent during infancy.
Usually limited to the fifth testing. Flexion contracture is the maximum
finger. extension measurement when performing passive
II Preadolescence Develops between the ages of 7 motion testing. A perfectly straight PIP joint is
and 11 years. Does not improve considered to have 0 degrees of lag or contrac-
spontaneously and may
progress to a severe flexion
ture. Extension lag and flexion contracture mea-
deformity of 90 degrees. surements are not mutually exclusive. A joint
III Syndromic Multiple digits of both may have an extension lag of 60 degrees, but pas-
extremities are affected. sive testing may reveal a joint correctable to a
Associated with a variety of
30-degree flexion contracture.
syndromes, such as craniofacial
disorders, short stature, and Assessing the finger with the metacarpopha-
chromosomal abnormalities. langeal (MCP) in flexion and extension is per-
52 C. Parolo et al.

formed next. For patients with camptodactyly, finger FDS must be separated from the ring finger
when the MCP joint is in extension the finger at the time of surgery to be a suitable donor for
assumes a flexed posture at the PIP. Passive transfer.
extension of the PIP may produce blanching of During the physical exam flexion deformity of
the skin, which implies a skin deficiency. small finger PIP joint with a flexible (correctable)
Additionally, if passive flexion of the MCP or fixed (non-correctable) deformity that progres-
improves PIP extension, the aetiology of the con- sively worsens over time if untreated and may
tracture is outside the PIP joint. This can mean rapidly worsen during growth spurts.
skin deficiency, subcutaneous fibrous bands, or Typically in camptodactyly, strength, sensa-
tightness of the extrinsic finger flexors, princi- tion and perfusion are normal. DIP and MCP
pally the FDS. If passive extension is not joint alignment are normal however compensa-
improved with MCP flexion, there is some com- tory contractures can develop. No swelling, ery-
ponent of primary joint contracture that will need thema or warmth associated with inflammation
to be surgically addressed. are noticed.
A compensatory hyperextension deformity of Radiographs are often normal, especially in
the MCP is frequently found with a PIP flexion early stages. In later stages, a decrease in the
deformity. With the Bouvier manoeuvre, the proximal phalangeal head convexity can be
examiner corrects the hyperextension by pas- noticed and a volar subluxation can occur
sively placing the MCP in neutral or slight flex- (Fig. 5.2).
ion. If this restores full PIP active extension, this
implies the MCP hyperextension as the cause of
the PIP flexion deformity and may be secondary
to an intrinsic muscle abnormality. An FDS trans-
fer to the lateral band is the procedure of choice.
This increases MCP flexion and PIP extension
forces.
For patients with passively correctable flexion
deformities, the extensor tenodesis effect is
checked to assess the extrinsic extensor integrity.
The wrist is placed in full flexion along with full
flexion of the MCP joints. In a normal finger, this
manoeuvre should produce full PIP extension
through passive stretch on extensor digitorum
communis. If it does not, this implies a laxity or
hypoplasia of the central slip.
The FDS of the little and ring finger may have
a tendinous interconnection, which prohibits
independent PIP joint flexion of the little finger.
Classically, if a patient cannot flex the little finger
while holding the ring finger in full extension,
this is thought to mean an absence of an FDS to
the little finger. The test should be repeated with
the liberation of the ring finger and similar assess-
ment of active PIP joint flexion. If the patient is
able to isolate PIP flexion of the ring finger and
the small finger simultaneously flexes at the PIP, Fig. 5.2 Proximal phalangeal head convexity in
this indicates an interconnected FDS. The small Camptodactyly
5 Camptodactyly 53

5.4 Treatment

Treatment can be either conservative, surgical or a

combination regimen in which only certain patients
undergo surgery, depending on its clinical severity.
These diverse techniques range from splinting or
stretching exercises to release of tendons, fascial
bands, muscle transfer and tenotomy.
Nonoperative treatment is favoured in most
cases whereby the PIP contracture is less than 40
Fig. 5.4 Palmar capsulotomy
degrees, and it includes passive stretching and
splinting. Outcomes are variable, but more
favourable with early intervention. Various tendon transfers and lengthenings have
Surgery should be reserved for patients with a been used. McFarlane et al. advocated FDS trans-
preoperative PIP joint contracture of more than fer of the fifth finger to the extensor mechanism
60°. Operative treatment includes FDS tenot- after an anomalous insertion of the lumbrical
omy ± FDS transfer. It is indicated when the muscle had been sought. Koman et al. lengthened
deformity is progressive and leading to functional or transferred the FDS tendon and reconstructed
impairment. FDS tenotomy or FDS transfer to the extensor mechanism. Gupta and Burke rec-
radial lateral band is indicated if full active PIP ommended the extensor indicis proprius (EIP)
extension can be achieved with MCP flexion. transfer to the radial side of the extensor expan-
Osteotomy or arthrodesis is indicated in sion in an attempt to strengthen the intrinsic
severe fixed deformities. action. Results of treatment are difficult to com-
Hori et al. advocated using a dynamic splint pare owing to lack of objective data in most stud-
worn 24 h a day until full extension of the PIP ies. McFarlane et al. reported perfect results in
joint was achieved, followed by a regimen in 22% of cases after 1 year.
which the splint is worn 8 h a day. Contracture Preoperative joint contractures play an impor-
tended to recur when the dynamic splint was no tant role both in treatment indications and out-
longer used. This raises the question of when to comes. We now reserve surgical intervention for
tell the patient to stop wearing the splint. Siegert cases with PIP joint contracture of more than 60°.
et al. performed release of the FDS according to Surgery on patients who have minor contractures
Smith and Kaplan’s recommendations, which is more likely to produce complications than to
was followed by a palmar capsulotomy and col- produce benefits. Postoperative rehabilitation is
lateral ligament release if necessary (Figs. 5.3 important, as loss of flexion is a disaster. It is also
and 5.4). Engber and Flatt advocated a combina- important to instil a sense of realism in patients at
tion of volar soft tissue releases: some combina- the onset of treatment by explaining that they will
tion of skin, subcutaneous tissue, flexor tendon be fortunate to obtain a correction of the defor-
sheath, FDS, PIP collateral ligament and volar mity and that if they do, they should regard it as
plate release. Osteotomy was used occasionally. an unexpected bonus. It should be explained that
the real aim of surgery should be to prevent fur-
ther progressive deterioration.

5.5 Conservative Treatment

In our department, different types of splints are

used based on the classification of Foucher. For
Fig. 5.3 Collateral band release reducible contractures (type IA) a static night
54 C. Parolo et al.

Fig. 5.6 Dynamic splint

Fig. 5.5 Static splint often worn from the early months of life and used
during the night and during the afternoon nap.
splint is used (Fig. 5.5), while for irreducible The initial choice of the type of splint is there-
ones (type IB) a dynamic splint in extension with fore not a definitive choice. A type IB campto-
circular base module, wrist included and Levame dactyly may become reducible after a few months
type bar as dynamic tractions is custom made of treatment with the use of a dynamic splint and
(Fig. 5.6). It is very important that the splint is therefore a static type will be chosen. During
worn correctly. The splint in PIP extension must development stiffness may recurr and a dynamic
have dorsal closure stabilizing the V metacarpal splint should be applied again.
very well and positioning the MPJ at about 50° of
flexion. In fact, in addition to the bending stiff-
ness of the PIPJ, there is often a compensatory 5.6 Surgical Technique
attitude in hypertension of the MPJ Furthermore,
the dynamic bar must pull the middle phalanx on A volar linear incision is used and converted to
the proximal phalanx by means of a velcro ring multiple z-plasties, placing the central limbs over
with a perfectly perpendicular force. the flexion creases of the joints. On reflecting the
The difficulty of realization is linked to the skin, the shortened retinaculum is visualized; it is
complexity of the orthosis and the size of the fifth released, including the bony attachment of
finger of a child (or a newborn). The splint is Grayson’s ligaments. At this stage, the lateral
5 Camptodactyly 55

bands of the intrinsic apparatus and interosseous

muscles are freed from their abnormal and wide-
spread attachment to the sides of the proximal
phalanx. It is this attachment that prevents the
extension of the PIP joint. On its release, proxi-
mal pull on the lateral bands will confirm that PIP
extension can now occur. Some attenuation of the
central slip may have occurred and is probably
Fig. 5.7 Pre-op
secondary, as in other forms of prolonged PIP
joint contracture. Its presence can be confirmed
by the central slip tenodesis test. It involves flex-
ing the wrist and the MP joints. In the normal
hand, the PIP joint will automatically fully
extend, owing to tension on the central slip inser-
tion. If the central slip is attenuated, there will be
an extensor lag at the PIP joint. In such patients,
the central slip can be treated by appropriate
postoperative splinting. The lumbrical muscle is Fig. 5.8 Post-op
abnormally inserted and often adherent to the
proximal phalanx. It may also have an abnormal Among this series, 67 fingers concluded the
origin and occasionally may be inserted into the conservative treatment with success (56 with no
FDS tendon proximal to the A1 pulley. The FDS lack of extension—excellent result; 11 fingers
tendon is tested by a tenodesis test to ascertain with an extensor lag minor than 20°—good
whether it is short. If the PIP joint cannot be fully result) (Figs. 5.7 and 5.8). Conservative treat-
extended when the wrist is in extension, the FDS ment failed in 18 fingers (lag of extension major
is short and must be released. Two types of FDS than 20°). Ten fingers (seven from the conserva-
abnormalities exist: (1) one in which the FDS is tive group plus three from the fixed group never
merely short, and (2) the other in which only the treated with splinting) underwent surgery with a
distal portion of the FDS is present, there is prox- lag of extension of more than 40°.
imal aplasia, and the distal part of the FDS acts as Results were excellent in two digits (no lag of
a tenodesis, producing a flexion contracture of extension), good in three (lag of extension less
the PIP joint. In such cases, complete surgical than 20° and poor in five (lag of extension more
release by division is undertaken. A small minor- than 20°) (Table 5.3).
ity may require release of the flexor tendon In all of our series, there was an improvement
sheath, volar plate or even the accessory collat- after treatment and the quality of results depended
eral ligaments. The central slip attenuation upon the severity of the contracture and protocol
responds to postoperative extension splinting. compliance.
From 2002 to 2018, we have treated 54 The conservative approach leads to gains in
patients and 88 fingers affected by function. Hand therapy and custom-made splint-
camptodactyly. ing are essential to obtain and maintain improve-
In total, 59 fingers were affected by the flexi- ment of passive extension and to regain active
ble form. Twentynine fingers were affected by extension both in conservative and surgical treat-
the rigid form. ment. Continuous monitoring, constant use of
A total of 85 fingers underwent conservative splints and manipulation are important to main-
treatment (59 flexible and 26 fixed). tain the achieved results.
56 C. Parolo et al.

Table 5.3 Results of treatment

Results
56 fingers
-at least 1y follow up- Excellent result
Just conservative treatment Extension lag
Flexible form -59 fingers- All with good results
3 fingers
Good result
Extension lag < 20*
Rigid form -29 fingers- 26 fingers conservative treatment

8 fingers 18 fingers
Good result Poor results
Extension lag < 20* Extension lag > 20*

3 fingers direct
surgical treatment 7 fingers Surgery
Extension lag > 40* Extension lag > 40º

All had benefits in gains of extension and correction of

the deformity, in most cases with reduced AROM

2 fingers 3 fingers 5 fingers

Excellent result Good result “Poor” result
Almost complete AROM Extension lag < 20* Extension lag > 20*

McCash C. Congenital contractures of the hand. In: Stack

Further Reading HG, Botton H, editors. The proceedings of the Second
Hand Club, British Society for Surgery of the Hand.
Courtemanche AD. Campylodactyly: etiology and man- London; 1975. p. 399–401.
agement. Plast Reconstr Surg. 1969;44:451–4. McFarlane RM, Curry GI. Evans HBAnomalies of the
Dautel G. Camptodactylies. Chir Main. 2003;22:115–24. intrinsic muscles in camptodactyly. J Hand Surg.
De Haas WHD. Camptodactylie Nederlands tijdschr 1983;8:531–44.
Geneesk. 1957;101:2121–4. McFarlane RM, Classen DA, Porte AM, Botz JS. The
Doffin G, Lenoble E, Foucher G, et al. Camptodactylie: anatomy and treatment of camptodactyly of the small
classification et résultats thérapeutiques. Ann Chir finger. J Hand Surg. 1992;17A:35–44.
Main (Ann Hand Surg). 1994;13(1):20–5. Minami A, Sakai T. Camptodactyly caused by abnormal
Engber WD, Flatt AE. Camptodactyly: an analysis of insetion and orgin of lumbrical muscle. J Hand Surg.
sixty-six patients and twenty-four operations. J Hand 1993;18B:310–1.
Surg. 1977;2:216–24. Miura T. Nontraumatic flexion deformity of the proximal
Gupta A, Burke FD. Correction of camptodactyly. J. Hand interphalangeal joint: its pathogenesis and treatment.
Surg. 1990;15B:168–70. Hand. 1983;15:25–34.
Hori M, Nakamura R, Inoue G, et al. Nonoperative Miura T, Nakamura R, Tamura Y. Long-standing extended
treatment of camptodactyly. J Hand Surg. dynamic splintage and release of an abnormal
1987a;12A:1061–5. restraining structure in camptodactyly. J Hand Surg.
Inoue G, Tamura Y. Camptodactyly resulting from para- 1992;17B:665–72.
doxical action of an anomalous lumbrical muscle. Miura T, Nackamura R, Tamura Y. Long standing
Scand J Plast Reconstr Hand Surg. 1994;28:309–12. Extended Dynamic splintage and release of an abnor-
Koman LA, Toby EB, Poehling GG. Congenital flexion mal restraining structure in camptodactyly. J Hand
deformities of the proximal interphalangeal joint in Surg Br. 1992;17B:665–72.
children: a subgroup of camptodactyly. J Hand Surg. Ogino T, Kato H. Operative findings in camptodactyly of
1990;15A:582–6. the little finger. J Hand Surg. 1992;17B:661–4.
Maeda M, Matsui T. Camptodactyly caused by an abnor- Oldfield MD. Camptodactyly: flexor contracture of the
mal lumbrical muscle. J Hand Surg. 1985;10B:95–6. fingers in young girls. Br J Plast Surg. 1956;8:312–7.
5 Camptodactyly 57

Scott J. Hammer finger with notes of seven cases occuring Smith RJ, Kaplan EB. Camptodactyly and similar atrau-
in one family. Glasgow Med J. 1903;60:335–44. matic flexion deformities of the proximal interphalan-
Siegert JJ, Cooney WP, Dobyns JH. Management of sim- geal joints of the fingers: a study of thirty-­one cases. J
ple camptodactyly. J Hand Surg. 1990;15B:181–9. Bone Joint Surg. 1968;50A:1187–203.
Siegert JJ, Cooney WP, Dobyns JH. Management of sim- Stoddard EE. Nomenclature of hereditary crooked fin-
ple camptodactyly. J Hand Surg Br. 1990;15B:181–9. gers: Streblomicrodatyly and camptodactyly—are
Smith PJ. Ross DAThe central slip tenodesis test for early they synonyms? J Hered. 1939;30:511–2.
diagnosis of potential Boutonniere deformities. J Todd AH. Hereditary contracture of the little fingers
Hand Surg. 1994;19B:88–90. (Kamptodactyly). Lancet. 1929;2:1088–9.
 Syndactyly
6
Daniel M. Weber

Abstract
6.2 Epidemiology
Syndactyly is a common hand anomaly that
affects 1 in 2000–3000 live births. It has a Syndactylies are among the most common hand
spectrum from simple syndactylies with anomalies, with an estimated incidence of 1 in
fusion of the skin and soft tissues only, com- 2000–3000 live births, affecting both hands in
plex syndactylies with fusion of bones and 50%. Ten to 40% have a positive family history
nails to complicated syndactylies which are with a clear male predominance.
often associated with syndromes. The basic principles of segmentation of the
This chapter covers the epidemiology, clas- hand are fairly well understood. The apical ecto-
sification, and diagnostic workup of syndacty- dermal ridge controls the proximodistal out-
lies. It presents treatment strategies for growth of the limb, whereas the development and
surgical corrections of syndactylies, including differentiation along the radio-ulnar axis are con-
techniques with skin grafts, without skin trolled by the zone of polarizing activity (ZPA).
grafts, and with skin substitutes. The ZPA and the AER work in a close feedback
loop, resulting in a hand plate that becomes visi-
Keywords ble in the fifth week of development. During the
elongation process, digits form through conden-
Syndactyly · Child · Hand · Surgery · Release sation, whereas tissues in between are removed
by apoptosis in a distal to proximal orientation.
Only a perfect equilibrium between the Bone
6.1 Introduction Morphogenic Proteins (BMPs) that suppress
fibroblast growth factors (FGFs), thereby induc-
Syndactyly is a congenital limb anomaly that is ing apoptosis, and the BMP inhibitors enable a
characterized by an incomplete separation of dig- normal development. Interference with or muta-
its, caused by abnormal interdigital connections. tions of BMPs, FGFs, and BMP inhibitors sup-
The term is derived from the Greek words syn, press controlled apoptosis and can therefore
meaning together and dactylos, meaning digit. induce syndactylies, sometimes associated with
polydactylies or synostoses [1, 2].
There are over 300 known syndromic anom-
D. M. Weber (*) alies causing syndactylies with etiologies that
Division of Hand Surgery, Department of Pediatric
Surgery, University Children’s Hospital, Zurich, remain poorly understood, mainly due to their
Switzerland phenotypic and genetic diversity. Within fami-
e-mail: [Link]@[Link]

© Springer Nature Switzerland AG 2023 59

G. Pajardi (ed.), Pediatric Hand Surgery, [Link]
60 D. M. Weber

lies and even individuals, phenotypes may be between a normal web space and the fingertips
severe or mild, unilateral or bilateral, and can describe all forms of syndactyly. Furthermore,
affect both or either hands and feet [1]. syndactylies can be classified into simple syndac-
Geneticists classify syndactylies on Temtamy tylies, complex syndactylies, and complex com-
and McKusick’s system which has been plicated syndactylies (Fig. 6.1). Simple
extended to nine non-­syndromic forms of syn- syndactylies are characterized by only cutaneous
dactylies, seven of them with autosomal domi- and soft tissue fusions of the fingers and well-­
nant inheritance, variable expressivity and developed, separated fingernails. Usually, the
incomplete penetrance and two autosomal segmentation of the digits, tendons, and pulleys
recessive forms. Syndactyly type I is the most is normal with occasional distalisation of the
common non-syndromic syndactyly, usually bifurcation of the neurovascular bundles.
affecting the third web space on the hands and Complex syndactylies involve the nail and osse-
the second web space on the feet. The most ous phalanges and may be associated with seg-
common subtype 1 has been associated with mentation anomalies of tendons and a distalisation
the locus 3p21.31 but no disease-causing genes of the bifurcation of the neurovascular bundles.
have been identified [1]. Complex complicated syndactylies have a
severely disturbed anatomy not only of the osse-
ous elements but also of the neurovascular bun-
6.3 Classification dles and musculotendinous structures. They are
often associated with syndromes, such as in
Simple clinical classifications help surgical plan- Apert’s syndrome.
ning. The differentiation into complete syndac- As mentioned above, some geneticists and
tyly includes the fingertips and partial syndactyly pediatricians adhere to the classification which is
with a web space that can reach anywhere based on Temtamy and McKusick.
6 Syndactyly 61

a b

Simple, incomplete Simple, complete

c d

Complex Complicated

Fig. 6.1 Classification of syndactylies: (a) Simple, separation-syndactyly. In: Hentz VR, editor. The hand and
incomplete; (b) Simple, complete; (c) Complex; (d) upper lim (Part2) in: Mathes SJ, editor. Plastic surgery
Complicated. (From Upton J: Management of disorders of vol. 8. Philadelphia: Saunders Elsevier; 2006. P. 140)
62 D. M. Weber

6.4 Diagnostic Workup However, if in doubt, an X-ray is recommended,

because the complexity can be underestimated as
Simple syndactylies of the fingers with a full illustrated in Fig. 6.2 with a patient with a famil-
mobility of the IP joints don’t need a further ial synpolydactyly. A pediatric or genetic workup
workup, since a regular anatomy of tendons and is recommended for complicated syndactylies
neurovascular bundles can be anticipated. and can be considered in complex syndactylies.

Fig. 6.2 The X-ray

reveals the complexity
of this complete,
complex, complicated
syndactyly in a child
with a synpolydactyly
6 Syndactyly 63

6.5 Treatment

The aim of surgical separation of web spaces is

improving or maintaining function while opti-
mizing the appearance of the hand by separating
all digits.

6.5.1 General Principles

Irrespective of the localization and type of the

syndactyly, some principles of reconstruction
must be respected.

[Link] Flap Coverage of the Web

The proximal definition of the web should be
covered with a wide, well-vascularized flap to
Fig. 6.3 A simple hand-drawn sketch illustrates to par-
avoid scar formation and “web creep”, a second- ents the shortage of skin
ary syndactyly that narrows or distalizes the new
commissure. The width of the flap should ensure
a round configuration and avoid a V-shaped web with autologous skin grafts. Full-thickness skin
space. Dorsally based flaps can be mobilized eas- grafts are preferred over split skin grafts,
ily since they have hardly any fascio-cutaneous because they hardly shrink. The pigmentation,
adherence and have the advantage of bringing texture, and hair bearing of the donor skin must
pigmented skin to the dorsal and well-visible match the recipient site on the hand and the
aspect of the web space. Ideally, they mimic the donor site must be inconspicuous. Traditionally,
natural proximal to distal and dorsal to palmar full-thickness skin grafts are taken from the
inclination of the web. ulnar volar aspect of the wrist, the cubital fossa,
or the groin. It is important to remember that the
[Link] Skin Grafts and Substitutes skin from the groin may grow pubic hair after
There is a shortage of interdigital skin when sep- puberty, particularly when being taken
arating syndactylies. This becomes evident on a medially.
hand drawn sketch and can be explained and An excellent donor site that is not used com-
demonstrated to parents easily (Fig. 6.3). Various monly is retroauricular skin (Fig. 6.4). It is hardly
flap designs have been recommended to separate hair bearing and has a superior color match when
partial and complete syndactylies without skin compared with groin skin (Fig. 6.5) [4]. The
grafts. Partial syndactylies up to the PIP joint can ellipsoid incisions should be marked with a pen
be separated reliably without using skin grafts or so that 1/3 of the skin is taken from the ear.
substitutes [3] (technique see below), whereas Injection of a local anesthetic with a vasocon-
separation of complete syndactylies without skin strictor (such as bupivacaine + adrenaline) facili-
grafts may be associated with higher risks of tates harvesting of the skin graft. After a two-layer
complications and a less favorable outcome. wound closure with resorbable subcutaneous and
Large skin defects on the hand result in scars intracutaneous sutures, a light dressing may be
that retract and may distort the neighboring skin applied for a day or two. Experienced surgeons
flaps. Exceptionally, skin defects may be toler- may harvest the retroauricular skin graft before
ated in stiff fingers, when contractures are not operating on the hand to minimize tourniquet
an issue, such as in Apert’s hands with symphal- time and avoid leaving the draped hand to raise a
angism. Traditionally, skin defects are covered skin graft.
64 D. M. Weber

Fig. 6.4 Full-thickness retroauricular skin graft

Dermal substitutes or a hyaluronic scaffold gertips. However, quite often, there is not enough
can be used as an alternative to skin grafts. It volume and the author prefers doing asymmetri-
shortens operating time and avoids donor site cal flaps with a transverse Buck-Gramcko flap
scars. Application by suture fixation is easy and from one fingertip, asymmetrical longitudinal
spontaneous resorption of the hyaluronic acid is incisions between the pulps and a simple transla-
followed by spontaneous epithelialization with a tion of the pulp on the donor fingertip (Fig. 6.7).
good color match (Fig. 6.6). Good results were It is important not to mobilize the fasciocutane-
published [5]; however, no studies have com- ous adherence extensively to avoid wobbly fin-
pared the results of skin substitutes with skin gertips. Sutures on the nail fold should never be
grafts. tight and small defects that heal secondarily are
acceptable.
[Link] Fingertip and Nail Wall
Reconstruction [Link] Exposure and Separation
Complete complex and complete complicated of Neurovascular Bundles
syndactylies often have fused nails and therefore Dissection in a bloodless field with a tourniquet
lack a lateral nail fold. Spontaneous scarification allows a good visualization of the neurovascular
of the nail fold or scarification after application bundles. In simple syndactylies, the bifurcation
of full-thickness skin grafts after separation of of nerves and vessels is usually deep in the web
the nails results in nail growth disturbance. Flap space and does not limit the opening of the web
coverage of the defect protects nail growth and space. In complex syndactylies, such as, for
creates a natural-looking nail fold. Buck-­ example, in Apert syndrome, one may find just
Gramcko published symmetrical flaps from the one interdigital artery with a distal bifurcation
neighboring fingertips [6]. They provide excel- that necessitates ligation of one digital artery.
lent results in children with well-developed fin- Before ligating one branch, one may apply a
6 Syndactyly 65

Fig. 6.5 Simple syndactyly can be separated with a dorsal Omega flap and triangular interdigital flaps. The skin defects
can be covered with full-thickness skin grafts

microvascular clamp and open the tourniquet to may be considered as long as there is a good visu-
reassure sufficient vascularization of both digits. alization of the neurovascular bundles during dis-
Distal bifurcation of digital nerves can be treated section. If all fingers are syndactylized,
by interfascicular longitudinal dissection and simultaneous separation may not be optimal due
separation with a scalpel under loup (3.5×) or to the limited skin and soft tissue coverage. A
microscopic magnification. two-stage procedure, starting with the first and
third and followed by the second and fourth web
[Link] Simultaneous Separation space in a second stage, should be considered in
of Multiple Syndactylies these hands.
Traditionally, the separation of multiple adjacent
syndactylies was avoided to prevent digital isch- [Link] Dressings and Dressing
emia due to simultaneous dissection on the radial Changes
and ulnar neurovascular bundle. Nevertheless, Dressings protect the wound and secure skin
simultaneous separation of adjacent syndactylies grafts. Application under tourniquet is acceptable
66 D. M. Weber

Fig. 6.6 Skin substitutes such as hyaluronic scaffolds can give similar results to full-thickness skin grafts, however, the
time to primary wound healing may be prolongated

as long as the surgeon feels confident regarding with synthetic dressings such as Mepilex Silver
flap vascularity and if recapillarization of the fin- Transfer® (Fig. 6.6) give similar results in the
gertips can be observed with the dressing. Both author’s hands. Tie-over dressings are not needed
traditional wound dressings with fat gauze and to secure digital skin grafts in hands. However,
cotton, as well as more elaborate wound dressings dressings must be well secured and may be stuck
6 Syndactyly 67

Fig. 6.7 Asymmetrical finger pulp flaps, modified after the Buck-Gramcko technique result in a good nail wall recon-
struction and unimpaired nail growth

Fig. 6.8 Complete

syndactylies of digits
with unequal length
should be separated
early to avoid
progression of
clinodactyly

directly on the skin. An additional stocking on top similar dressing as that during surgery can be
of the first dressing can be changed by the parents. applied together with some ointment, followed
The thumb should be left under the stocking and by further dressing changes as needed. Parents
the arm should be immobilized in a sling to pre- are encouraged to massage the scars with oint-
vent the use of the hand and inadvertent removal ment or silicone gel. Prophylactic splinting with
of the first dressing. Splint or cast immobilization silicone application at night for up to 6 months
is reserved for complex cases with osteotomies may be considered if hypertrophic scars are
and K-wire insertion. anticipated.
The first dressing change can be planned after
2 to 3 weeks. The author recommends the use of [Link] Timing of Surgery
resorbable sutures such as, for example, Vicryl-­ Syndactylized fingers of unequal length tend to
Rapid 6–0®, so that no routine anesthesia is get a progressive clinodactyly and should be sep-
needed for the first dressing change and removal arated early, preferentially around 6 months of
of the stitches [7]. At the first dressing change, a age (Fig. 6.8). All other syndactylies can be oper-
68 D. M. Weber

ated ideally from about the first birthday until the [Link] The Second to Fourth Web
age of 18 months. Anesthesia at an earlier age is Spaces of the Hand
more demanding and may bear higher risks [8]. Dozens of techniques and flap designs to separate
The determined will of children between the ages syndactylies have been published [9]. The author
of 18 months and 4 years and yet the limited recommends surgeons to limit themselves to a
understanding of the goal of surgery makes elec- few techniques and to become familiar with them
tive surgery and immobilization difficult in this before eventually trying other flap designs. The
age group and may pose a major burden to the standard armamentarium should comprise a tech-
children and their families. nique for complete syndactylies with full-­
thickness skin grafting or skin substitutes
(Figs. 6.5 and 6.6) [10] and graftless techniques
6.5.2 Surgical Techniques for partial syndactylies until the PIP joint
(Fig. 6.10) or slight distalization of the web space
[Link] The First Web Space (Fig. 6.11) [3]. Irrespective of the flap design, it is
of the Hand important to make a deep, i.e., proximal web
Syndactylies of the first web space are usually space since it always tends to migrate distally
associated with syndromes, such as Apert’s syn- again. Short fingers, such as in symbrachydac-
drome, or other anomalies, such as symbrachy- tyly, look longer if the web space is slightly too
dactyly, thumb hypoplasia, or amniotic bands. proximal.
Separation of the first web space must therefore
always incorporate treatment of all aspects of the [Link] Syndactyly of the Feet
anomaly. The associated narrowing of the first The incidence of simple, partial syndactylies of
web space is not only due to the cutaneous syn- the second web space of the feet is x per 10,000
dactyly but also due to contractures of the adduc- live births. Most concerns consider appearance of
tor pollicis and the first dorsal interosseous the foot, since functional problems or pain is
muscle. The fascia of these muscles must be exceptional. Although surgical separation of
incised during the exposure of the first web space ­syndactylies of the feet follows the same princi-
and the insertion of the adductor on the third ples as that of the hands, indications should be
metacarpal may need to be released. Fibrous kept restrictive: The complication rate after syn-
bands, resembling interglenoid ligaments dactyly repair, particularly for infections, is
between the thumb and index, can be found and higher on the feet than on the hands. Scars can be
must be released when present. An artery that very cumbersome at sports, particularly with ath-
runs in the first web space and bifurcates to the letic shoe wear. The authors therefore recom-
thumb and index far distally is a common finding. mend the separation of syndactylies between the
Before the ligature of one arterial branch, it may second and third toes only at the patient’s wish at
be clamped and the perfusion checked after an older age and not upon parental desire only.
release of the tourniquet. Surgical separation is recommended for the
In a relatively proximal partial syndactyly, first web space, since syndactyly fuses the bipha-
local “Z-flaps” and a “VY-flap” in the first web langeal first toe the biphalangeal second toe and
space may be sufficient. More distal forms and because web space is functional for wearing flip-­
narrow web spaces need large flaps such as the flop sandals. Furthermore, the separation of toes
dorsal rotation-advancement flap (Fig. 6.9) and of unequal length, mostly in the third web space,
eventually a full-thickness skin graft. A microsur- should be considered, because fusion of unequal
gical flap may be considered in very tight first toes results in progressive clinodactyly and may
web spaces with complete syndactyly. be associated with pain or clavus formation.
6 Syndactyly 69

Fig. 6.9 Wide, dorsal

rotational advancement
flap to liberate the first
web space in a patient
with symbrachydactyly

Associated anomalies, such as postaxial polysyn- 12 months, before children start walking, since
dactyly, should be excluded with an X-ray before this makes care much easier for the families.
surgery. Interdisciplinary evaluations together Surgical principals are the same as those for
with a pediatric orthopedic surgeon should be hands, with an emphasis of a good flap coverage
considered in complex syndactylies of the feet, in the web space. Small full-thickness skin grafts
particularly in children with syndromes, such as, may be taken below the lateral malleolus, if
for example, Apert syndrome. We recommend needed (Fig. 6.12).
early syndactyly repair at the age of 9 to
70 D. M. Weber

Fig. 6.10 Repair of partial syndactylies up to the PIP joint with primary skin closure without skin grafts

Fig. 6.11 Web deepening for proximal forms of partial

syndactylies with multiple Z-plasties (trident flaps) with-
out skin grafts
6 Syndactyly 71

Fig. 6.12 Syndactyly repair of the feet is warranted for the first web space. It follows similar principles as that of the
hands with wide commissural flaps and full-thickness skin transplants

6.6 Complications ommended in children with difficult scars after

syndactyly release. Keloid formation is an
Injury to digital arteries or tension of skin flaps unusual complication after syndactyly release.
may delay wound healing, promote infections, A study by Muzaffar et al. demonstrated, that
and result in the loss of skin grafts. Severe scar- primary digital enlargement is a highly predic-
ring and web creep can be the consequences tive risk factor for keloid formation and that
and lead to functional as well as esthetic defi- standard treatment with pressure, topical or
cits that require reoperations [11]. Scars may intralesional corticosteroids may not be suffi-
not inhibit hand function initially. However, cient to control keloids [12].
tight scars do not grow with the child and may Reoperations for scar contractures or hyper-
result in contractures, clinodactyly, and even trophic scars should be delayed until the matura-
luxation of joints years after the initial surgery tion of the scars, which does not occur until
(Fig. 6.13) Therefore, splinting at night is rec- 6 months postoperative.
72 D. M. Weber

Fig. 6.13 Severe late complication with clinodactyly and subluxation of the DIP due to scar contractures

7. Weber DM, Schiestl CM. Absorbable sutures help

References minimise patient discomfort and reduce cost in syn-
dactyly release. Eur J Pediatr Surg. 2004;14(3):151–4.
1. Ahmed H, et al. Genetic overview of syndactyly 8. Davidson A, Vutskits L. The new FDA drug safety
and polydactyly. Plast Reconstr Surg Glob Open. communication on the use of general anesthetics in
2017;5(11):e1549. young children: what should we make of it? Paediatr
2. Oberg KC, et al. Developmental biology and classifi- Anaesth. 2017;27(4):336–7.
cation of congenital anomalies of the hand and upper 9. Samson P, Salazard B. Syndactyly. Chir Main.
extremity. J Hand Surg Am. 2010;35(12):2066–76. 2008;27(Suppl 1):S100–14.
3. Tonkin MA. Failure of differentiation part I: syndac- 10. D’Arcangelo M, Gilbert A, Pirrello R. Correction of
tyly. Hand Clin. 2009;25(2):171–93. syndactyly using a dorsal omega flap and two lateral
4. Sulser PS, Kalisch M, Weber DM. Retroauricular full-­ and volar flaps. A long-term review. J Hand Surg Br.
thickness skin grafts in syndactyly repair: outcome 1996;21(3):320–4.
and comparison with inguinal full-thickness skin 11. Canizares MF, et al. Complications and cost of syn-
grafts: retrospective (cross-sectional) study. J Plast dactyly reconstruction in the United States: analysis
Surg Hand Surg. 2016;50(5):281–5. of the pediatric health information system. Hand (N
5. Landi A, et al. Hyaluronic acid scaffold for skin Y). 2017;12(4):327–34.
defects in congenital syndactyly release surgery: a 12. Muzaffar AR, et al. Keloid formation after syndactyly
novel technique based on the regenerative model. J reconstruction: associated conditions, prevalence, and
Hand Surg Europ. 2014;39(9):994–1000. preliminary report of a treatment method. J Hand Surg
6. Errol G. Syndactyly. In: Dieter B-G, editor. Congenital Am. 2004;29(2):201–8.
malformations of the hand and forearm. London:
Churchill Livingstone; 1998. p. 131–40.
 Symbrachydactyly
7
Elisa Rosanda, Chiara Parolo, and Giorgio Pajardi

Abstract Keywords

Symbrachydactyly is a congenital hand defect Symbrachydactyly · Congenital hand · Poland

where there is both syndactyly and brachydac- syndrome · Toe-to-hand transfer · Non-­
tyly. The clinical manifestations have many vascularized free phalangeal transfer
variations, from a hand with hypoplastic fin-
gers to a severe form of adactylous hand.
Symbrachydactyly is typically unilateral, 7.1 Introduction
characterized by failure of the formation of
fingers and presence of rudimentary nubbins Symbrachydactyly is a congenital hand defect
that include elements of nail plate, bone, and where in which there is both syndactyly and
cartilage. brachydactyly.
The etiology is still unknown, but vascular The clinical manifestations have many varia-
dysgenesis during fetal development is a lead- tions, from a hand with hypoplastic fingers to
ing hypothesis. severe form of adactylous hand.
The treatments vary based on the degree of Symbrachydactyly is typically unilateral,
malformation and family needs. When surgi- characterized by failure of formation of fingers,
cal treatment is needed, syndactyly release is and presence of rudimentary nubbins that include
the most frequent procedure. In monodactyly elements of nail plate, bone, and cartilage. In the
type or adactyly type pinch function can be past was called also atypical cleft hand for the
created with non-vascularized free phalangeal absence of the central digits and presence of the
transfer procedure or microsurgical toe-to- digit of the border [1].
hand transfers. Symbrachydactyly was first described by
Poland in 1841. He described a syndrome in
E. Rosanda (*) · C. Parolo which there was a combination of absence or
University Department of Hand Surgery and hypoplasia of long finger, syndactyly, and hypo-
Rehabilitation, San Giuseppe Hospital MultiMedica plasia of pectoralis major (Fig. 7.1) [2]. Pol in
IRCCS, Milan University, Milan, Italy
1921 was the first who used the terms
e-mail: [Link]@[Link];
[Link]@[Link] Symbrachydactyly and described two different
forms: with or without the association of hypo-
G. Pajardi
Milan, Italy plasia or aplasia of pectoralis major [3].
e-mail: gpajardi@[Link]

© Springer Nature Switzerland AG 2023 73

G. Pajardi (ed.), Pediatric Hand Surgery, [Link]
74 E. Rosanda et al.

a b

Fig. 7.1 Poland syndrome: (a) hypoplasia of pectoralis major and (b) symbrachydactyly

Today, the symbrachydactyly is classified in Associated syndrome [71]

the Oberg, Manske, and Tonkin (OMT) classifi- Cohen syndrome
cation as an undergrowth or failure of axis Aglossia-adactyly syndrome
formation. Coffin–Siris syndrome
Dyggve–Melchior–Clausen syndrome
Grebe syndrome
CHILD syndrome
7.2 Epidemiology Duplication 9p syndrome

The diverse morphologic characteristics of sym-

brachydactyly make accurate incidence difficult.
A study from Brazil reported a 0.054% incidence
7.3 Etiology
of symbrachydactyly in Caucasians and 0.043%
The etiology of symbrachydactyly is still
in African Americans [4]. Two studies from Japan
unknown, but vascular dysgenesis during fetal
reported an incidence of 1 in every 20,000 to
development (“subclavian artery supply disrup-
30,000 births [5] and 1 in 10,000 birth [6]. Other
tion sequence”) is a leading hypothesis [10].
survey estimates an incidence of approximately
In support of this theory, a study of eight
0.6 per 10,000 in live births. In total, 73% of
patients with Poland syndrome showed decreased
cases are males. The condition is usually unilat-
blood flow velocity in affected limbs [11]. Other
eral with the left upper limb alone involved in
studies suggest different etiologies: one study
67% of cases, the right in 27%, and 1% to 7%
showed that giving 5-fluorouracil early in preg-
bilateral [7]. A total of 7% of cases have associ-
nancy produced symbrachydactyly in rats [12].
ated anomalies such as Poland syndrome, in
Another study showed that injection of busulfan
which hypoplasia or absence of the pectoralis
produced rats with central clefts, osseous syndac-
major occurs with additional variable abnormali-
tyly, and symbrachydactyly [13, 14].
ties [2]. In 7% of cases, there is a positive family
Based on the current understanding of upper
history of symbracydactyly [7–9].
limb development, symbrachydactyly likely
Associated syndrome [71] arises through disruption of the apical ectodermal
Poland syndrome ridge (AER) of the developing limb bud. The
Moebius syndrome AER, a thickening of ectodermal cells at the dis-
Langer-Giedion syndrome tal end of the limb bud, directs proximal-distal
Trisomy 9p syndrome
limb development through a complex cascade of
Deletion 5p syndrome
growth factors and genetic signaling, while con-
7 Symbrachydactyly 75

trolling aspects of mesenchyme cell differentia- Pol in 1921 who classified symbrachydactyly
tion [15]. In animal models, disruption of the into two groups: those with and without a pecto-
AER and its signaling pathways causes trans- ral muscle defect [3]. Blauth and Gekeler [23]
verse deficiencies, including symbrachydactyly refined Müller’s original concepts [24] into a
[16–18]. classification system for symbrachydactyly that
Although limb development occurs in a prox- included 4 phenotypes, and is the most com-
imal-distal manner, there may be some regenera- monly used classification:
tive capacity of distal limb elements after a partial
or complete insult to the AER that may result in 1. Short finger type (brachymesophalangia):
the characteristic “nubbins” or rudimentary digits presence of thumb and four short coalesced
seen in symbrachydactyly [18, 19]. stiff digits that may have one or more missing
phalanges, most often the middle.
2. Oligodactylic type (atipical cleft hand): the
7.4 Classification central part of the hand is aplastic with a rela-
tively intact thumb and fifth digits.
The International Federation of Societies for 3. Monodactyly type: the thumb is present; the
Surgery of the Hand (IFSSH) has adopted the fingers are absent or aplastic.
OMT classification system [20]. In the OMT sys- 4. Peromelic type: adactyly with complete
tem, symbrachydactyly is categorized as a failure absence of all digits at the metacarpal level
of formation of the proximal-distal axis, which with rudimentary nubbins (Fig. 7.2).
can involve the entire upper limb or the hand
plate [21]. In the previous IFSSH system, sym- Yamauchi and Tanabu [25] described a more
brachydactyly was classified under I (failure of elaborate classification of 7 types based on the
formation), II (failure of differentiation), and V morphological and radiographic bony deficiency
(undergrowth) categories [22]. but not providing guidance for treatment.
Over the years, several classifications of sym- Foucher [26] modified the Blauth classifica-
brachydactyly have been described: The first was tion. He subdivides the four groups into subcate-

Fig. 7.2 Blauth and Gekeler classification

76 E. Rosanda et al.

Table 7.1 Foucher’s Classification

Type Features Thumb Ulnar digit Interventions
I All bones and digits present, Normal Bones present, Syndactyly release
brachydactyly and brachydactyly or
syndactyly syndactyly
II A ≥2 fingers. Normal thumb, Normal Hypoplastic, Non-vascularized toe phalanx
hypoplastic fingers syndactyly transfers, ablation, or stabilization
IIB Functional border digits, Normal Present, variable Surgery rarely indicated
variable central nubbins hypoplasia and
stability
IIC “Spoon hand”, thumb Present Hypoplastic, Variable
conjoined with hypoplastic (±stability) clinodactyly
ulnar digit
IIIA Monodactyly Normal Absent Vascularized toe-to-hand transfer
IIIB Monodactyly Hypoplastic and/ Absent Variable, vascularized toe-to-hand
or unstable transfer, thumb stabilization,
thumb lengthening
IVA Peromelic, wrist mobility Absent Absent Surgery not indicated
IVB Peromelic, no wrist mobility Absent Absent Surgery not indicated

gories describing the functionality of thumb and 7.6 Treatment

ulnar digit and giving the indication for surgery
(Table 7.1). The treatments of symbrachydactyly vary based
on the degree of malformation and family needs.
It is important at the beginning of the clinical
7.5 Differential Diagnosis relationship with the family to discuss all the pos-
sible surgical and nonsurgical treatments and the
Symbrachydactyly can be confused with other correct timing of these. It is known that a correc-
different hand conditions. The most difficult dif- tion of the grip must be in the early childhood for
ferential diagnosis is with the constriction ring maximizing function. Many manual skills are
syndrome. There are some elements that differ developed by the age of 3, including pinch [29,
within these two malformations. 30].
In the constriction ring syndrome: Finally because the malformation is usually
unilateral sometimes families choose to simply
• fenestrated syndactyly (acrosindactily) may await development and observe how their child
be present progresses.
• nails are absent in the amputated finger
• the upper limb isn’t hypoplastic
• there are the signs of a constriction band 7.6.1 Nonoperative Treatment
• more than one limb is typically involved
In symbrachydactyly, nonoperative interventions
Central deficiency is another differential diag- are hand therapy, psychomotricity, and prosthe-
nosis: symbrachydactyly was previously called ses. An occupational and psychomotricity thera-
“atypical cleft hand” due to morphological simi- pist can help children with unilateral
larities [27]. Central deficiency is an autosomal malformations to increase their ability in the
dominant condition in which the central rays are activities of daily life while increasing self-
absent, it is usually bilateral and often associated esteem and gaining independence.
with cleft feet. Other conditions in the differen- In symbrachydactyly, the use of prostheses is
tial diagnosis of symbrachydactyly include Apert limited, primarily because it is typically unilat-
Syndrome, ulnar longitudinal deficiency, and eral and the prostheses cannot provide sensation.
hypodactyly [28]. In bimanual activity, children prefer to use the
7 Symbrachydactyly 77

affected hand to assist the contralateral hand par- thumb in the plane of the hand, and absence of
ticularly if it has wrist motion and/or at least one fingers.
sensate digit.
In adactylous hand with no wrist mobility, the [Link] Nubbins
prostheses may be helpful because they provide a Symbrachydactyly can result in severely hypo-
surface to grip against. There are passive hand plastic digits, referred to as nubbins. They consist
prostheses and myoelectric hand prostheses. of a small balloon-like digit with a hypoplastic
Without surgical intervention, these are the nail and a small bit of cartilage or distal phalan-
ability levels that children typically develop [31]:geal bone connected to the hand by a relatively
narrow skin sleeve.
• Adactylous hand: unable to perform single-­ The nubbins can cause difficulties with respect
hand prehension. Assist the contralateral to nail care and may impede prehension if they
extremity in performing tasks, stabilizing are located in an area of palmar contact or web
objects on a flat surface or against the body, space. Some parents choose to remove the abnor-
and using the wrist to hook or hold objects. mal appearing digits some not, because they are
• Monodactylous hand: usually has a thumb considered as fingers by the child (Fig. 7.3).
and may have a normal palm width with intact
metacarpals. May have more stable bimanual [Link] Syndactyly
hand tasks and may be able to hook and press Syndactyly and web contractures are treated to
with the finger. The child may be able to pinch improve independent digital function, grasp span,
between the thumb and palm. and appearance. Depending on the type of sym-
• Bidactylous hand: usually has a thumb and a brachydactyly, the syndactyly could be complete
single ulnar digit. The ulnar digit, if long and incomplete for example usually in the Type I
enough and stable, will provide a pinch against (Blauth and Gekeler) is incomplete. The syndac-
the thumb, and these children usually can hold tyly release could be challenging because vessels
objects in the hand and perform 2-finger or are often hypoplastic or have an abnormal course.
palm pinch. They cannot perform cylindrical For incomplete simple syndactyly of the digits,
pinch and grip strength is usually weak com- twofold or fourfold Z-plasty is usually sufficient
pared with the uninvolved side. [32]. For complete syndactyly, the choice of flap
• 3-functioning-digit hand: usually have tip, depends on surgeon preferences. We prefer Flatt’s
palm, and cylindrical grip with more strength technique [33] (Fig. 7.4).
compared with the 2-fingered hand, though In cases of tight syndactyly, to allow the skin
power grip may be limited. release and limit the need for skin grafting, the
• 4- and 5-digit hands: have greater power grip authors use tissue distraction performed using an
than other types. The fingers may have unsta- external distraction device (Cube-Fix distractor)
ble interphalangeal joints but are capable of developed for Apert Syndrome [34, 35]. The
single-hand prehension. device is referred to as the “magic cube” since the
distraction results in extra skin that makes subse-
quent separation easier (Fig. 7.5).
7.6.2 Operative Treatment
[Link] Web Contracture
The treatment of symbrachydactyly depends on Release of the web space in symbrachydactyly
the clinical appearance, function, radiological can be more challenging than similar releases
findings, and perceived patient needs. The spe- performed for other congenital disorders due to a
cific aspect of symbrachydactyly that the treat- lack of local skin available. Usually, the web
ment addresses can be used to help categorize the space may benefit from deepening and widening.
surgical treatments: nubbins, syndactyly and web Priority is given to the first web space to facilitate
contracture, brachydactyly, digit instability, the thumb function. A 4-flap z-plasty is useful for
78 E. Rosanda et al.

Fig. 7.3 symbrachydactyly: nubbins

a b

Fig. 7.4 Syndactyly release with Flatt’s technique: (a) preoperative photograph of type I symbrachydactyly. (b)
Preoperative planning of syndactyly release, Flatt’s flap is used for 2° web space

a b c d

Fig. 7.5 Cube-Fix distractor as the first step of tight syndactyly release: (a) preoperative photograph of type I sym-
brachydactyly, dorsal view and (b) palmar view; (c) and (d) postoperative result of positioning of cube-fix
7 Symbrachydactyly 79

deepening the first web space; for widening the tight soft tissue. The other web spaces can be
first web space the authors prefer jumping man treated with multiple Z-plasties, jumping man
flap (5-flap z-plasty). In more severe cases, a dor- flap (5-flap z-plasty), Ostrowsky flaps, and more
sal rotation flap will bring additional skin into the complex advancement techniques [40–42].
first web [36]. Finally, there are more complex Deepening web spaces greater than the normal
advancement techniques [37–39]. After the skin level gain the illusion of a longer digit and aid
incision is important to release the fascia and function (Figs. 7.6 and 7.7).

a b c

Fig. 7.6 Web spaces deepening using Ostrowsky flaps: (a) preoperative planning of the flaps dorsal view and (b) pal-
mar view; (c) postoperative result

a b c d

e f g h

Fig. 7.7 First web release technique: (a) preoperative Preoperative planning of Buck Gramcko flap and (f)
photograph of 4-flap z-plasty and (b) postoperative intraoperative appearance. (g) Preoperative photograph of
appearance. (c) Preoperative photograph of modified 5-flap z-plasty and (h) postoperative result
Buck Gramcko flap and (d) postoperative result. (e)
80 E. Rosanda et al.

[Link] Thumb in the Plane of the Hand phalanx. This operation may be useful in type IIA
In symbrachydactyly, thumb is usually hypoplas- symbrachydactyly, when the base of the proximal
tic and in the plane of the hand. phalanx is present along with a generous soft tis-
To improve the position and function of the sue envelope.
adducted thumb, it is necessary to release soft tis- The procedure was first described in 1919 by
sue in the first web. When the thumb is also retro- Noesske and recently used by Goldberg and
pulsed, osteotomy may reposition the thumb in a Watson [45]. The procedure must be performed
more appropriate position for pinch. Langer et al. in early childhood. Goldberg and Watson demon-
[43] reported the results of the first web space strated that for patients between 6 and 18 months
deepening combined with an abduction-­rotational at the time of surgery, 91% of phalanges had
osteotomy of the thumb metacarpal in 5 of 14 radiographically radiolucent physes and these
children. The osteotomy repositioned the meta- phalanges showed growth between 83% and
carpal in an average of 73° of palmar abduction 100% of the contralateral undisturbed phalanx. In
and 60° to 90° of pronation to facilitate pulp-to- children 18 months to 5 years old, only 67% of
pulp pinch. In this series, all hands were able to transferred bones had open physes, whereas chil-
perform key pinch and lateral pinch and showed dren more than 5 years of age had only 50%
subjective improvement in hand function and radiographically open physes; however, the per-
appearance. Iba et al. [44] also reported a small centage of growth was the same [45].
series of patients in whom improvement in pinch Buck-Gramcko reported similar results with
and thumb function was noted after web-­plasty better outcomes in children younger than 12
and rotation osteotomy of the first metacarpal. months [46].
When the thumb is ipoplastic, it is possible to The procedure involves the entire proximal
combine first web deepening with Huber muscle phalanx of the fourth or third toe being extraperi-
transfer or other procedures to gain stability and osteally harvested with its proximal collateral
force as thumb metacarpal lengthening, thumb ligaments and plantar plate, and then positioned
interphalangeal joint arthrodesis, long finger articulating against the metacarpal head. The
metacarpal lengthening. plantar plate and collateral ligaments are secured
to the host metacarpal. Primitive flexor and exten-
[Link] Digit Instability sor tendons in the hypoplastic digit are sutured to
Floppy or unstable digits occur in symbrachydac- the transferred phalanx [31]. Then all is secured
tyly. Chondrodesis, or fusion of the two cartilagi- with a Kirschner wire from proximal to distal.
nous surfaces, may stabilize these digits. To reduce shortening on the finger at the donor
Arthrodesis can be performed in unstable, floppy site, authors prefer to suture flexors and extensor
skeletally fingers without disturbing physeal tendons together at the level of bone draw. Other
growth once the epiphysis has ossified. option is the interposition of bone graft in the
phalangeal void within the toe.
[Link] Brachydactyly and Absence The use of non-vascularized free toe phalanx
of Fingers in symbrachydactyly is debated; the literature
reveals variable results, with longer-term follow-
Non-Vascularized Free Toe Phalanx up showing more disappointing outcomes. The
Transfers most frequent complications or issues are reab-
The objective of this operation is to augment the sorption of the transposed graft (more often
length and stability of the fingers to improve pre- observed if the graft does not include the distal
hension and appearance. Non-vascularized toe articular surface), donor site morbidity, poor
phalangeal bone grafts provide additional length functional results, and instability of toe phalanx
for short hypoplastic digits in which the skin [47] (Fig. 7.8).
sleeve is longer than the skeletal elements. Such Garagnani et al. studied 40 children with a
digits usually have ossification only in the distal mean follow-up of 10 years, they noted consid-
7 Symbrachydactyly 81

a b c f

d e

Fig. 7.8 Non-vascularized free-toe phalanx transfers postoperative results (e) thumb to ulnar digit pinch (f)
technique: (a) A patient with a monodactylous hand with preoperative planning of donor site (g) intraoperative
hypoplastic thumb; (b) preoperative planning of phalanx photograph of phalanx drawing (h) long term follow-up of
transfer on the ulnar ray (c) preoperative radiographs (d) donor site appearance

erable long-term donor site morbidity after toe were infection, nonunion, or fracture in 32%.
phalangeal harvest with many donors toes Miyawaki [51] reported successful cases of
floppy, unstable, and short with deformities in metacarpal lengthening in patients with types
adjacent toes [48]. Patients and families reported IIA, IIB, and IIIA, noting improved pinch
varying degrees of dissatisfaction with the strength with no major complications; Heo
appearance and durability of the foot as well as [52] reported a series of 24 metacarpal and 27
cosmetic and physical problems with regard to phalangeal lengthening procedures with a 31%
the toes [48]. complication rate, including nonunion, frac-
ture, premature consolidation, angulation, and
Distraction Lengthening hardware failure. Others authors have reported
Bone distraction is potentially useful for the angulation of the lengthened bones, with
treatment of short fingers in symbrachydactyly. unsatisfactory appearance [ 53].
However, the high rate of complications makes Seitz [54] reported a large series reflecting his
the indications debated [49]. This treatment long-term experience with distraction lengthen-
rarely normalizes appearance and the literature ing in the arm, forearm, and hand for children
shows mixed results with little information to with a wide range of conditions. He demonstrated
indicate whether this procedure improves func- that in most cases the procedure increase length;
tion and appearance. the family and child are satisfied despite of com-
Foucher [50] reviewed results of distraction plex and arduous procedure and high rate of com-
lengthening in 41 patients, 22 cases with sym- plication (50% minor, 9% major).
brachydactyly. He reported an average gain of Given the high rates of complications reported
2.3 cm over 4 months. Complications observed for distraction lengthening and the paucity of evi-
82 E. Rosanda et al.

dence to support significant functional gains, fingers remaining on the ulnar side of the
authors rarely perform this procedure in hand
symbrachydactyly. 3. unilateral and extremely rarely bilateral
absence of all five digits
Microsurgical Toe-to-Hand Transfers
Toe-to-hand transfer is well-accepted for the There are two indications for considering toe
treatment of traumatic amputations in adults and transfers to reconstruct absent fingers:
children. The indication for congenital hand mal-
formations remains more debated. 1. Absence of all four fingers proximal to the
O’Brien and colleagues [55] described the base of the middle phalanges, but with a nor-
first toe-to-hand transfer for a congenital hand mal thumb (correspond to types IIIA and IVA
anomaly in 1978, and several series have subse- symbrachydactyly)
quently been reported [56, 57]. 2. Complete absence of all five digits
Toe-to-hand transfer could be more difficult in
symbrachydactyly despite of other anomalies as Providing pinch to the adactylous hand by
constriction ring syndrome or traumatic amputa- microsurgical toe transfer is usually accom-
tions: the host nerves, blood vessels, and tendons plished in two stages, first with a digit in the
may be hypoplastic, anomalous, or absent in chil- thumb position and then with a digit positioned
dren with symbrachydactyly. for pinch using the second toe transfer most com-
In 1988, Lister [58] described 12 toe-to-hand monly [62]. Other authors have suggested that
transfers in children with various congenital hand the simultaneous transfer of bilateral second toes
differences, including three cases of symbrachy- has the advantage of not having to dissect the pre-
dactyly, and noted unique neuro-­vascular ana- viously anastomosed vessels in a second proce-
tomic variations in each patient. dure. Results show that toe to hand transfer is a
Others have reinforced that there is a wide safe procedure: reported survival rates are greater
variation in the neurovascular structures in sym- than 96% [63–66].
brachydactyly [58–60]. The range of motion of the transferred toes
The optimal age for toe transfers remains can be unpredictable and Is the most common
unknown, but most experienced surgeons believe indication for secondary revision. Passive range
toe transfers between 2 and 3 years of age have of motion exceeds the active range of motion.
the best cortical integration [60], although trans- Despite this finding, tenolysis is rarely useful
fers have been successfully reported in older chil- [65, 67]. The transferred toes usually have mini-
dren [61]. mal active distal interphalangeal motion and an
The indications for toe-to-hand transfers are extension deficit at the proximal interphalangeal
still being established for unilateral symbrachy- joint. A fixed flexion deformity of the toe transfer
dactyly. Jones and Kaplan [60] proposed a mor- is a frequent outcome.
phologic framework of indications for Vilkki [68] reported that 14 of 17 patients had
vascularized toe transfer in congenitals. There the ability to pinch, whereas Van Holder et al.
are three indications for considering microsurgi- [69] documented a mean extension deficit of 20°
cal reconstruction of an absent thumb: in 28 transfers at the distal joint and active total
flexion of proximal and distal joints of 80°.
1. isolated absence of the thumb, distal to the Foucher et al. [64] reported on 65 toe transfers
metacarpal base with preservation of the car- with 25° of extensor lag and approximately 38°
pometacarpal joint and thenar muscles and of active motion.
with four normal or relatively normal fingers Growth and sensation are usually satisfac-
2. absence of the thumb as well as the index, tory. Kay et al. [67, 70] documented that trans-
middle, and ring fingers, but with one or two ferred toes can reach up to 100% length of the
7 Symbrachydactyly 83

a c e g

b d f h

Fig. 7.9 Microsurgical toe-to-hand transfers: (a) A to hand transfers; (d) postoperative radiographs (e) thumb
patient with a monodactylous hand with hypoplastic to “new” fingers pinch (f) preoperative planning of donor
thumb; previous operation a non-vascularized free toe sites (g) intraoperative photograph of toe harvest drawing
phalanx transfers to ulnar digit; (b) preoperative (h) long term follow-up of donor sites appearance
radiographs; (c) postoperative appearance after double toe

contralateral toe with normal growth, whereas der Hand und des Fußes. Virchows Arch Path Anat.
other authors reported the length range from 1921;229:388–530.
4. Fraser FC, Ronen GM, O’Leary E. Pectoralis major
60% to 100% [65]. defect and Poland sequence in second cousins: exten-
Foucher et al [64] reported mean two-point sion of the Poland sequence spectrum. Am J Med
discrimination of 5 mm. Kay and Wiberg [67] Genet. 1989;33:468–70.
found that all of the children recovered protective 5. Al-Qattan MM. Classification of hand anomalies in
Poland’s syndrome. Br J Plast Surg. 2001;54:132–6.
sensibility and the majority recovered good lev- 6. Ireland D, Takayama N, et al. Poland’s syndrome.
els of two-point discrimination and light touch A review of fortythree cases. J Bone Joint Surg.
perception. 1976;58A:52–8.
With regards to the psychological affects, Kay 7. Ekblom AG, Laurell T, Arner M. Epidemiology
of congenital upper limb anomalies in Stockholm,
et al. demonstrated a high level of satisfaction for Sweden, 1997 to 2007: application of the Oberg,
appearance, function, donor site, reaction of oth- Manske, and Tonkin classification. J Hand Surg Am.
ers, and psychological well-being in parents and 2014;39(2):237–48.
children [67] (Fig. 7.9). 8. Cobben JM, Robinson PH, van Essen AJ, van der
Wiel HL, ten Kate LP. Poland anomaly in mother and
daughter. Am J Med Genet. 1989;33:519–21.
9. Darian VB, Argenta LC, Pasyk KA. Familial Poland’s
References syndrome. Ann Plast Surg. 1989;23:531.
10. Bavinck JN, Weaver DD. Subclavian artery supply
disruption sequence: hypothesis of a vascular etiology
1. Gupta A, Kay SP, Scheker LR. The growing hand: for Poland, Klippel-Feil, and Möbius anomalies. Am
diagnosis and management of the upper extremity in J Med Genet. 1986;23(4):903–18.
children. Maryland Heights, MO: Mosby; 2000. 11. Bouvet JP, Leveque D, Bernetieres F, Gros JJ. Vascular
2. Poland A. Deficiency of the pectoralis muscles. Guys origin of Poland syndrome? A comparative rheo-
Hosp Rep. 1841;6:191–3. graphic study of the vascularization of the arms in
3. Pol R. “Brachydaktylie” – “Klinodaktylie” – eight patients. Eur J Pediatr. 1978;128(1):17–26.
Hyperphalangie und ihre Grundlagen: Form und 12. Iwagawa S. Symbrachydactyly: review of 50 cases
Enstehung der meist unter dem Bild der Brachtdaktylie and definition. Hiroshima J Med Sci. 1980;29:105–15.
auftretenden Varietaten Anomalien und Mißbildungen
84 E. Rosanda et al.

13. Ogino T, Ischii S, Minami M, et al. Congenital anom- 31. Woodside JC, Light TR. Symbrachydactyly - diag-
alies of the hand. The Asian perspective. Clin Orthop. nosis, function, and treatment. J Hand Surg Am.
1996;323:12–21. 2016;41(1):135–43.
14. Ogino T. Teratogenic mechanisms of longitudinal 32. Gulgonen A, Gudemez E. Reconstruction of the
deficiency and cleft hand. Handchir Mikrochir Plast first web space in symbrachydactyly using the
Chir. 2004;36:108–16. reverse radial forearm flap. J Hand Surg Am.
15. Fernandez-Teran M, Ros MA. The apical ectodermal 2007;32(2):162–7.
ridge: morphological aspects and signaling pathways. 33. Flatt AE. Treatment of syndactylism. Plast Reconstr
Int J Dev Biol. 2008;52(7):857–71. Surg Transplant Bull. 1962;29:336–41.
16. Summerbell D. A quantitative analysis of the effect 34. Nachemson A, Hessman P. Reconstruction of Apert
of excision of the AER from the chick limb-bud. J hands with Cube fix distractor. In: Proceedings 8th
Embryol Exp Morphol. 1974;32(3):651–60. World Symposium on Congenital Malformations of
17. Winkel A, Stricker S, Tylzanowski P, et al. Wnt-­ the Hand Upper Limb, Hamburg. 2009.
ligand- dependent interaction of TAK1 (TGF-beta-­ 35. Kvernmo HD, Haugstvedt JR. Treatment of congeni-
activated kinase-1) with the receptor tyrosine kinase tal syndactyly of the fingers. Tidsskr Nor Laegeforen.
Ror2 modulates canonical Wnt-signalling. Cell 2013;133(15):1591–5.
Signal. 2008;20(11):2134–44. 36. Friedman R, Wood VE. The dorsal transposi-
18. Goodell PB, Bauer AS, Sierra FJ, James tion flap for congenital contractures of the first
MA. Symbrachydactyly. Hand (N Y). 2016;11(3):262– web space: a 20-year experience. J Hand Surg Br.
70. Epub 2016 Sep 1. Review 1997;22(4):664–70.
19. Gardiner DM, Holmes LB. Hypothesis: terminal 37. Brown PW. Adduction—flexion contracture of
transverse limb defects with “nubbins” represent a the thumb: correction with dorsal rotation flap
regenerative process during limb development in and release of contracture. Clin Orthop Relat Res.
human fetuses. Birth Defects Res A Clin Mol Teratol. 1972;88:161–8.
2012;94(3):129–33. 38. Caroli A, Zanasi S. First web-space reconstruction
20. International Federation of Societies for Surgery of by Caroli’s technique in congenital hand deformi-
the Hand. IFSSH scientific committee on congenital ties with severe thumb ray adduction. Br J Plast Surg.
conditions. J Hand Surg Eur Vol. 2014;39(6):676–8. 1989;42(6):653–9.
21. Tonkin MA, Tolerton SK, Quick TJ, et al. Classification 39. Chang SM, Hou CL, Zhang F, Lineaweaver WC,
of congenital anomalies of the hand and upper limb: Chen ZW, Gu YD. Distally based radial forearm
development and assessment of a new system. J Hand flap with preservation of the radial artery: anatomic,
Surg Am. 2013;38(9):1845–53. experimental, and clinical stud- ies. Microsurgery.
22. Swanson AB. A classification for congenital limb 2003;23(4):328–37.
malformations. J Hand Surg Am. 1976;1(1):8–22. 40. Flatt AE, Wood VE. Multiple dorsal rotation flaps
23. Blauth W, Gekeler J. Morphology and classification of from the hand for thumb web contractures. Plast
symbrachydactylia. Handchirurgie. 1971;3(4):123–8. Reconstr Surg. 1970;45(3):258–62.
24. Müller W. Die angeborenen Fehlbildungen der men- 41. Waters PM, Bae DS. Pediatric hand and upper limb
schlichen Hand: Erb-und Konstitutionsbiologie der surgery: a practical guide. Philadelphia, PA: Wolters
Hand. New York, NY: Thieme; 1937. Kluwer Health/Lippincott Williams & Wilkins; 2012.
25. Yamauchi Y, Tanabu S. Symbrachydactyly. In: Buck-­ 42. Ostrowski DM, Feagin CA, Gould JS. A three-flap
Gramcko D, editor. Congenital malformations of the web-plasty for release of short congenital syndactyly
hand and forearm. London: Churchill Livingstone; and dorsal adduction contracture. J Hand Surg Am.
1998. p. 149–58. 1991;16(4):634–41.
26. Foucher G, Medina J, Pajardi G, Navarro 43. Langer JS, Manske PR, Steffen JA, Hu C, Goldfarb
R. Classification and treatment of symbrachydactyly. C. Thumb in the plane of the hand: characterization
A series of 117 cases. Chir Main. 2000;19(3):161–8. and results of surgical treatment. J Hand Surg Am.
27. Flatt AE. The care of congenital hand anomalies. St. 2009;34(10):1795–801.
Louis, MO: Quality Medical Publishing; 1994. 44. Iba K, Wada T, Aoki M, Yamashita T. Improvement
28. Knight JB, Pritsch T, Ezaki M, Oishi SN. Unilateral in pinch function after surgical treatment for thumb
congenital terminal finger absences: a condition that in the plane of the hand. J Hand Surg Eur Vol.
differs from symbrachydactyly. J Hand Surg Br. 2012;37(2):145–8.
2012;37(1):124–9. 45. Goldberg NH, Watson HK. Composite toe (pha-
29. Case-Smith J. Clinical interpretation of “development lanx and epiphysis) transfers in the reconstruc-
of in-hand manipulation and relationship with activi- tion of the aphalangic hand. J Hand Surg Br.
ties”. Am J Occup Ther. 1995;49(8):772–4. 1982;7(5):454–9.
30. Gordon A, Forssberg H. Development of neural 46. Buck-Gramcko D. The role of nonvascular-
mechanisms underlying grasping in children. In: ized toe phalanx transplantation. Hand Clin.
Connolly K, Forssberg H, editors. Neurophysiology 1990;6(4):643–59.
and neuropsychology of motor development. London: 47. Cavallo AV, Smith PJ, Morley S, Morsi AW. Non- vas-
MacKeith Press; 1997. p. 214–31. cularized free toe phalanx transfers in congenital hand
7 Symbrachydactyly 85

deformities—the Great Ormond Street experience. J 59. Richardson PW, Johnstone BR, Coombs CJ. Toe-
Hand Surg Br. 2003;28(6):520–7. to-hand transfer in symbrachydactyly. Hand Surg.
48. Garagnani L, Gibson M, Smith PJ, Smith GD. Long-­ 2004;9:11–8.
term donor site morbidity after free nonvascu- 60. Jones NF, Kaplan J. Indications for microsurgical
larized toe phalangeal transfer. J Hand Surg Br. reconstruction of congenital hand anomalies by toe-­
2012;37(4):764–74. to-­hand transfers. Hand. 2013;8(4):367–74.
49. Matev IB. Thumb reconstruction in children through 61. Spokevicius S, Radzevicius D. Late toe-to-hand trans-
metacarpal lengthening. Plast Reconstr Surg. fer for the reconstruction of congenital defects of the
1979;64(5):665–9. long fingers. Scand J Plast Reconstr Surg Hand Surg.
50. Foucher G, Pajardi G, Lamas C, Medina J, Navarro 1997;31(4):345–50.
R. Progressive bone lengthening of the hand in con- 62. Jones NF, Hansen SL, Bates SJ. Toe-to-hand trans-
genital malformations. 41 cases. Rev Chir Orthop fers for congenital anomalies of the hand. Hand Clin.
Reparatrice Appar Mot. 2001;87(5):451–8. 2007;23(1):129–36.
51. Miyawaki T, Masuzawa G, Hirakawa M, Kurihara 63. Gilbert A. Reconstruction of congenital hand
K. Bone-lengthening for symbrachydactyly of the defects with microvascular toe transfers. Hand Clin.
hand with the technique of callus distraction. J Bone 1985;1:351–60.
Joint Surg Am. 2002;84-A(6):986–91. 64. Foucher G, Medina J, Navarro R, et al. Toe trans-
52. Heo CY, Kwon S, Back GH, Chung MS. Complications fer in congenital hand malformations. J Reconstr
of distraction lengthening in the hand. J Hand Surg Microsurg. 2001;17:1–7.
Eur. 2008;33(5):609–15. 65. Gilbert A. Toe transfers for congenital hand defects. J
53. Matsuno T, Ishida O, Sunagawa T, Ichikawa M, Ikuta Hand Surg [Am]. 1982;7:118–24.
Y, Ochi M. Bone lengthening for congenital differ- 66. Chang J, Jones NF. Radiographic analysis of growth
ences of the hands and digits in children. J Hand Surg in pediatric microsurgical toe-to-hand transfers. Plast
Br. 2004;29(4):712–9. Reconstr Surg. 2002;109:576–82.
54. Seitz WH Jr, Shimko P, Patterson RW. Long-term 67. Kay SP, Wiberg M, Bellew M, Webb F. Toe to hand
results of callus distraction-lengthening in the transfer in children. Part 2: functional and psychologi-
hand and upper extremity for traumatic and con- cal aspects. J Hand Surg Br. 1996;21(6):735–45.
genital skeletal deficiencies. J Bone Joint Surg Am. 68. Vilkki S. Advances in microsurgical reconstruction of
2010;92(Suppl 2):47–58. the congenitally adactylous hand. Clin Orthop Relat
55. O’Brien BM, Black MJ, Morrison WA, et al. Res. 1995;314:45–8.
Microvascular great toe transfer for congenital 69. Van Holder C, Giele H, Gilbert A. Double second toe
absence of the thumb. Hand. 1978;10:113–24. transfer in congenital hand anomalies. J Hand Surg
56. Nyarady J, Szekeres P, Vilmos Z. Toe-to-thumb trans- (Br). 1999;24:471–5.
fer in congenital grade III thumb hypoplasia. J Hand 70. Kay SP, Wiberg M. Toe to hand transfer in chil-
Surg [Am]. 1983;8:898–901. dren. Part 1. Technical aspects. J Hand Surg (Br).
57. Schenker M, Wiberg M, Kay SP, et al. Precision 1996;21:723–34.
grip function after free toe transfer in children with 71. Rayan GM, Upton III J. Congenital hand anomalies
hypoplastic digits. J Plast Reconstr Aesthet Surg. and associated syndromes. Berlin: Springer; 2014.
2007;60:13–23.
58. Lister G. Microsurgical transfer of the second toe for
congenital deficiency of the thumb. Plast Reconstr
Surg. 1988;82:658–65.
 Central Synpolydactyly
8
Andrea Jester, Tatiana Y. Jacomel,
Michail Vourvachis, and Jeannette W. C. Ting

Abstract

Central synpolydactyly (CSPD) is a rare and 8.1 Introduction

heterogeneous, autosomal dominant congeni-
tal hand condition thought to be attributed to Central synpolydactyly (CSPD) is a non-­
the Homeobox-D13 (HOXD13) gene. There syndromic, complex and heterogeneous malfor-
are multiple clinical and radiological classifi- mation of the hand that is rare and can be
cation systems for syndactyly and CSPD challenging to manage. CSPD involves fusion
although none of these comprehensively (syn) of the central axis digits (third and fourth
describe the complexity of the condition. The rays only) with excess digits or parts of digits
degree of flexion, deviation and rotation at (poly). The accessory digit may arise from either
birth has a significant influence on the even- the middle or ring finger. The terminology is
tual form and function of the affected digits. often confusing in the literature as classically,
Unlike syndactyly or polydactyly alone, CSPD is a type of synpolydactyly (SPD). SPD, in
CSPD patients often also have stiffness and turn, is a subtype (II) of syndactyly [1–3].
flexion contractures of their interphalangeal As separate entities, both polydactyly and
joints, complicating their surgery and out- syndactyly are common, with an incidence of
come. We describe our two preferred surgical 5–17 [4] and 3–40 per 10,000 births [5], respec-
approaches to CSPD depending on the tively. The true incidence of CSPD is unknown,
patient’s skin type. but thought to be significantly rarer than polydac-
tyly or syndactyly alone. CSPD is also associated
Keywords with various forms of synpolydactyly of the toes
and rarely, hypospadias, which is beyond the
Central synpolydactyly · SPD 1 · SPD 2
scope of this chapter and therefore will not be
SPD 3 · Syndactyly
discussed [1, 6].

8.2 Genetics

CSPD is an autosomal dominant condition [1, 5,

A. Jester (*) · T. Y. Jacomel · M. Vourvachis 6] which shows incomplete penetrance, variable
J. W. C. Ting expressivity and intra- and inter-familial variabil-
Hands and Upper Limb Service, Birmingham
Women’s and Children’s Hospital, Birmingham, UK ity [5, 7–9] (Fig. 8.1). Much of our understanding
e-mail: [Link]@[Link] of the genetics behind CSPD has arisen from

© Springer Nature Switzerland AG 2023 87

G. Pajardi (ed.), Pediatric Hand Surgery, [Link]
88 A. Jester et al.

Fig. 8.1 A family of

two sisters and mother
all with CSPD. Note the
intra-family variability
commonly seen in
CSPD

investigations of large affected Turkish and minimum of seven alanine expansions will pro-
Chinese families as it is such a rare condition and duce SPD [6, 11, 13] with the greater expansion
therefore difficult to study in large populations leading to greater penetrance of phenotypic
[2, 6, 10]. The Homeobox (HOX) family of genes mutation and more limbs involved [1, 6, 11, 18].
is the main family of genes affecting limb pat- Deletions, frameshifting and missense mutations
terning that has been implicated in CSPD [1, 6, are also attributed to atypical or milder forms of
11, 12]. It encodes for a family of transcription SPD and other congenital hand conditions by
factors that affect downstream pathways, which producing proteins that are unable to function
in turn control axis formation during embryonic normally [6, 19, 20].
development [12, 13]. In humans, there are a total Very few syndromic conditions are associated
of 39 HOX genes. These are grouped into four with CSPD. One of these is Pallister–Hall syn-
clusters based on their location on four different drome, a very rare autosomal dominant disorder
chromosomes and named HOXA, B, C and D with unknown prevalence that can present with
clusters [6]. The HOXD cluster, and more spe- postaxial SPD or CSPD [21, 22]. It is caused by
cifically, the HOXD13 gene at chromosome mutations in the GLI3 gene, responsible for the
2q31, is believed to be responsible for CSPD [6, shaping of many organs during the prenatal
14]. The HOXD13 gene is also involved with period [22, 23]. These patients universally pres-
other congenital hand conditions including cer- ent with hypothalamic hamartoma [24].
tain subtypes of brachydactyly, brachysyndactyly
syndrome, VACTERL and other forms of syn-
dactyly [2, 3, 6, 12]. 8.2.1 Classification
The phenotype of CSPD seen is dependent on
whether the genetic abnormality of the HOXD13 Several classification systems have been used
genes is a result of polyalanine expansion, intra- over the years for SPD that are also applicable to
genic deletion, missense mutations or frameshift CSPD.
deletions [6]. Polyalanine expansion is when The first classification system used for SPD,
stretches of alanine (amino acid) increase in described by Stelling and Turek in 1963, classi-
length beyond a threshold, resulting in mutant fies SPD according to the morphological skeletal
proteins that cannot fold and therefore bind nor- abnormalities of the polydactylous component of
mally [6, 10, 15–17]. In the HOXD13 gene, a SPD [25–27]. Type I is associated with no skele-
8 Central Synpolydactyly 89

tal syndactylous attachment. Type II is character- Type II, the affected level is the proximal pha-
ised by a duplication of the common metacarpal lanx. It is also divided into two subtypes: Type
or phalanx associated with (Subtype A) or with- 2A involves duplication of the ring finger with a
out skeletal syndactyly (Subtype B). Type III syndactyly with the middle finger. The proximal
refers to polydactyly associated with a complete phalanx of the fourth digit is a “delta” phalanx.
duplication of the finger including the metacarpal Type 2B, however, does not show a delta pha-
[25–27]. lanx. Type III refers to the involvement of the
Over two decades later, in 1989, Buck-­ middle or distal phalanx of the middle and ring
Gramcko and Behrens [28] published a different fingers.
classification of SPD based on radiological fea- The main criticism of this classification sys-
tures rather than morphological features. Their tem is that it does not take non-bony issues such
aim was to be able to classify all polydactylies, as flexion deformity and soft tissue contractures
including pre, central and postaxial variations. into consideration. This is particularly relevant in
However, it does not include complex fusions, CSPD where the severity of soft tissue features
hypoplastic or incomplete digits [28]. significantly affects the functional and cosmetic
In 2014, Zhou et al. [13] developed a classifi- outcome of the fingers more so than syndactyly
cation with no genetic or precise radiological fea- and polydactyly alone. A more ideal classifica-
tures. The types are classified according to tion system would combine both Zhou’s and
predicted surgical difficulty. The mild form clini- Wall’s principles to allow surgeons to compare
cally presents with supplementary fingers, with conditions and outcomes meaningfully. This has
normal outline of fingers and joints and no bony yet to be described.
abnormalities or dysfunctions. The moderate
form is associated with supplementary fingers,
with a normal bony shape and webbed fingers or 8.2.2 Surgical Considerations
finger adhesions affecting joint movement. In
severe forms, the extra digits are associated with CSPD patients present even within the same fam-
bony deformity, resulting in compromised grip ily with very a wide-ranging phenotypic expres-
and function. sion. Various factors can have a significant impact
In 2016, Wall et al. [25] published a radiologi- on the final form and function of the hand. The
cal classification for CSPD only, identifying outcome is significantly affected by the degree of
types based on the bony level of the polydacty- flexion contracture as well as deviation or rota-
lous digit and its associated characteristic skele- tional deformity. Proximal and distal interphalan-
tal deformities (Fig. 8.2 and Table 8.1). They do geal joints are not rarely partially or completely
not, however, include additional clinical features stiff. Even with meticulous separation of fingers,
such as flexion deformity, hypoplastic bones or removal of accessory digits and intensive post-
soft tissue anomalies. They argue that their clas- operative hand therapy, stiffness often remains.
sification system not only facilitates the commu- Discussions with parents with regards to the
nication between the surgeons, but more surgery and outcome need to be individualised to
importantly, it would allow for a more systematic the patient and conducted comprehensively and
approach towards CSPD than previous classifica- openly by a surgeon who understands these com-
tion systems. Type I is characterised by the plexities. Parents should also be aware that
involvement of the metacarpals. It is divided into although the aim of surgery is to maximise the
two subtypes: A (division of the metacarpal bone, outcome with a minimal number of operations, as
affecting the ring and middle fingers) and B the child grows, additional surgery may be
(extra digit between third and fourth fingers). In required to accommodate for these changes.
90 A. Jester et al.

Type 1A Type 1B Type 2A

Type 2B Type 3

Fig. 8.2 Classification of Polysyndactyly. (From Wall et al., synpolydactyly of the hand: a radiographic classification.
J Hand Surg Eur Vol 2016 Mar 41(3):301–307 [25])

Table 8.1 Classification of polysyndactyly. (From Wall et al., Synpolydactyly of the hand: a radiographic classifica-
tion. J Hand Surg Eur Vol 2016 Mar 41(3):301–307 [25])
Classification Level of
type duplication Description
1 A Metacarpal 3rd metacarpal bifurcates
Affects long and ring fingers
B Metacarpal 3-or 4-boned digits between long and ring fingers
Syndactylised to ring or both ring and long fingers
2 A Proximal phalanx Duplication of ring finger
Syndactyly may involve long finger
Delta phalanx of ring P1
B Proximal phalanx Duplication of ring or long fingers
Parallel of divergent orientation
3 Middle or distal Duplication at P2 or P3 level between long and ring fingers
phalanx
8 Central Synpolydactyly 91

8.3 Authors Preferred Method oblique scars, especially on the dorsal surface. In
the author’s experience, there are no issues with
The aim of CSPD surgery consists of the separa- flap viability and therefore can be used safely.
tion of the syndactylous middle finger from the Over the pulp, a straight-line incision continues
ring finger as well as the removal of the dupli- into reciprocal triangular flaps. This is a variation
cated finger. The duplication may be of either the of the technique first described by Lundkvist [30]
middle or ring finger. The principles are to achieve and adapted by (and popularly known as flaps by)
an excellent cosmetic result and the best possible Buck-Gramcko (Fig. 8.3b) [31]. These flaps are
functional outcome, without compromising either. used to recreate the nail folds.
Scars should be hidden in the inter-digital space; Full-thickness grafts from the elbow crease
grafts should be of similar colour as the recipient are used to resurface only the wounds adjacent to
side. Palmar scars should furthermore not lead to the web space. All other raw areas are left to heal
an increase in flexion contractures. I tend to use spontaneously. Post-operative management of
two main techniques to separate the fingers, with these patients usually involves a dressing change
the choice being dependent on the patient’s skin 14–21 days after the surgery.
colour. These techniques are also used in conven- For dark-skinned patients, other than minimis-
tional syndactyly releases. ing dorsal scars, the additional complication to
In fair-skinned patients, a palmar flap com- avoid is a colour mismatch. Dark-skinned patients
bined with inter-digitating zig-zag flaps is used to have very light-coloured palmar skin compared
minimise visible dorsal scarring that is evident to their darker dorsal skin. A palmar flap as
when the patient looks that their outstretched hand. described above would result in a lighter-coloured
The palmar flap is designed with the base of the palmar skin being evident in the darker dorsal
flap just proximal to an imaginary arch connecting skin in the depth of the web space. A combination
the palmar digital crease of the index and the little of both dorsal and palmar rectangular flaps is
finger. The centre of the palmar flap is in the mid- therefore used to avoid this and has been
dle of the fused finger mass. The flap is slightly described by Flatt in 1974 [32]. Another advan-
narrowed at the waist with the distal tip of the flap tage of this technique is that only one full-thick-
shaped like the gothic arch reaching up to the ness graft is required compared to the two needed
proximal inter-­phalangeal (PIP) crease [29]. When in the palmar flap. One of the disadvantages are
raising the central palmar flap careful blunt dissec- more visible scars on the dorsum of the hand
tion with the tip of the scissors aimed between the compared to the palmar only flap.
bones guarantees preservation of the perforators The removal of the polydactylous bone requires
and the vascular bundle. The palmar incisions are careful dissection and removal of all rudimentary
matched by a dorsal straight-line incision, which part of the accessory digit, also known as the
begins proximally at a point halfway between the “Anlage”. Incomplete removal of the cartilaginous
PIP joint and the metacarpal phalangeal (MCP) Anlage, especially between the metacarpal bones
joint and ends distally at the PIPJ (Fig. 8.3a). may lead to regrowth and a mechanical block that
Narrow thin-tipped triangular flaps are prevents patients from being able to adduct their
designed distal to this, running up the centre of fingers. This unfortunately leads to visible exten-
the syndactyly on the dorsal and corresponding sion of the scar on the dorsum.
volar surface. They extend to the middle of the The neurovascular bundles are not skeleton-
finger. These zigzag incisions are made with ised and fully dissected to prevent inadvertent
acute angles deliberately, as they result in hori- damage to these fine structures. Instead, a tech-
zontal scars that eventually “vanish” in dorsal nique of gentle spreading with scissors is used to
skin creases and therefore become very well hid- allow the vascular bundles to be guided into their
den. More obtuse-angled flaps result in obvious respective fingers.
92 A. Jester et al.

Fig. 8.3 (a) Planning of the incision and flaps for primary operation dorsal and palmar. (b) Planning of the fingertip
incisions

For patients with obviously deviated fingers 8.3.1 Secondary Surgery

caused by an aberrant epiphysis (Fig. 8.3a) a
decision needs be made as to be whether this As mentioned above, unlike patients with syn-
can be corrected at the same time as the separa- dactyl or polydactyly alone, patients with CSPD
tion. We do recommend this despite the fre- often need secondary surgery. In the author’s
quent need for further osteotomies at a later experience, children that are more likely to
date. (Fig. 8.3c) The foot surgery is also usu- require this are those who presented initially with
ally done at the same time as primary hand flexed and/or deviated synpolydactyly (Fig. 8.4).
surgery. Cosmetically and functionally, centrally posi-
8 Central Synpolydactyly 93

Fig. 8.4 Case 2: female, CSPD, Wall and Goldberg Type 1B. Initial radiographies (a). 2017: Pre-operative pictures (b)
and intra-operative images (c). Actual clinical and radiological findings (d)
94 A. Jester et al.

Fig. 8.4 (continued)

8 Central Synpolydactyly 95

tioned flexed fingers are more bothersome to straightening osteotomies. However, these proce-
patients and parents than extended fingers. These dures sacrifice grip in return for straighter digits
patients also seem to have an increasing tendency and therefore, are not offered to children until
to present with unfavourable palmar scar contrac- they are fully grown and are able of making
tures and webbing that need revision surgery. A informed and considered decisions themselves.
large generous full thickness grafting is usually Deviated fingers may also need osteotomies at a
required to prevent its recurrence as the patient later stage depending on whether the patients
continues to grow. Other more invasive proce- present with a cosmetic or functional issue
dures are also available to the patients, including (Figs. 8.5 and 8.6).

Fig. 8.5 Case 3: female, CSPD, Wall and Goldberg Type. Initial radiography (a) and clinical presentation (b). Intra-­
operative photos of second surgery (c). Post-operative images (d)
96 A. Jester et al.

Fig. 8.5 (continued)

8 Central Synpolydactyly 97

Fig. 8.6 Case 4: female, CSPD, Wall and Goldberg Type 2A. Initial radiographies (a). Actual radiographies left side
(b) and clinical presentation (c)
98 A. Jester et al.

Fig. 8.6 (continued)

4. Zguricas J, Bakker WF, Heus H, Lindhout D, Heutink

References P, Hovius SE. Genetics of limb development and
congenital hand malformations. Plast Reconstr Surg.
1. Jordan D, Hindocha S, Dhital M, Saleh M, Khan 1998;101:1126–35.
W. The epidemiology, genetics and future manage- 5. Mali KS. Syndactyly: phenotypes, genetics and cur-
ment of syndactyly. Open Orthop J. 2012;6:14–27. rent classification. Eur J Hum Genet. 2012;20:817–24.
2. Zhao X, Sun M, Zhao J, Leyva JA, Zhu H, Yang W, 6. Quinonez SC, Innis JW. Human HOX genes disor-
et al. Mutations in HOXD13 underlie syndactyly type ders. Mol Genet Metab. 2014;111:4–15.
V and a novel brachydactyly-syndactyly syndrome. 7. Sayli BS, Akarsu AN, Sayli U, Akhan O, Ceylaner S,
Am J Hum Genet. 2007;80:361–71. Sarfarazi M. A large Turkish kindred with syndactyly
3. Ghoumid J, Andrieux J, Sablonniere B, Odent S, type II (synpolydactyly). 1. Field investigation, clini-
Philippe N, Zanlonghi X, et al. Duplication of chromo- cal and pedigree data. J Med Genet. 1995;32:421–34.
some 2q31.1-q31.2 in a family presenting syndactyly 8. Merlob P, Grunebaum M. Type II syndactyly or poly-
and nystagmus. Eur J Hum Genet. 2011;19:1198–201. syndactyly. J Med Genet. 1986;23:237–41.
8 Central Synpolydactyly 99

9. Yucel A, Kuru I, Bozan ME, Acar M, Solak 20. Debeer P, Bachelli C, Scambler PJ, De Smet L, Fryns
M. Radiographic evaluation and unusual bone forma- JP, Goodman FR. Severe digital abnormalities in a
tions in different genetic patterns in synpolydactyly. patient heterozygous for both a novel missense muta-
Skelet Radiol. 2005;34:468–76. tion in HOXD13 and a polyalanine tract expansion in
10. Dai L, Heng ZC, Zhu J, Cai R, Mao M, Wang H, et al. HOXA13. J Med Genet. 2002;39:852–6.
Mutation analysis of HOXD13 gene in a Chinese 21. Hall JG, Pallister PD, Clarren SK, Beckwith JB,
pedigree with synpolydactyly. Zhonghua Yi Xue Yi Wiglesworth FW, Fraser FC, et al. Congenital
Chuan Xue Za Zhi. 2005;22:277–80. hypothalamic hamartoblastoma, hypopituitarism,
11. Mundlos S, Horn D. Synpolydactyly. In: Mundlos imperforate anus and postaxial polydactyly—a new
S, Horn D, editors. Limb malformations. An atlas syndrome? Part I: clinical, causal and pathogenetic
of genetic disorders of limb development. Berlin: considerations. Am J Med Genet. 1980;7:47–74.
Springer; 2014. p. 38–40. 22. Chandra SR, Daryappa MM, Mukheem Mudabbir
12. Barham G, Clarke NM. Genetic regulation of embry- MA, Pooja M, Arivazhagan A. Pallister-Hall syn-
ological limb development with relation to con- drome. J Paediatr Neurosci. 2017;12:276–9.
genital limb deformity in humans. J Child Orthop. 23. Kang S, Graham JM Jr, Olney AH, Biesecker
2008;2:1–9. LG. GLI3 frameshift mutations cause autoso-
13. Zhou J, Chen Y, Cao K, Zou Y, Zhou H, Hu F, mal dominant Pallister-Hall syndrome. Nat Genet.
et al. Functional classification and mutation analy- 1997;15:266–8.
sis of a synpolydactyly kindred. Exp Ther Med. 24. Hall JG. Pallister-Hall syndrome has gone the way of
2014;8:1569–74. modern medical genetics. Am J Genet C Semin Med
14. Sarfarazi M, Akarsu AN, Sayli BS. Localization of Genet. 2014;166:414–8.
the syndactyly type II [synpolydactyly] locus to 2q31 25. Wall LB, Bae DS, Oishi SN, Calfee RP, Goldfarb
region and identification of tight linkage to HOXD8 CA. Synpolydactyly of the hand: a radiographic clas-
intragenic marker. Hum Mol Genet. 1995;4:1453–8. sification. J Hand Surg Eur. 2016;41:301–7.
15. Amiel J, Trochet D, Clement-Ziz M, Munnich A, 26. Stelling F. The upper extremity. In: Furgusion A, edi-
Lyonnet S. Polyalanine expansions in human. Hum tor. Orthopedic surgery in infancy and childhood.
Mol Genet. 2004;13(Suppl 2):235–43. Baltimore: Williams & Wilkins; 1963. p. 304–8.
16. Wajid M, Ishi Y, Kurban M, Dua-Awereh MB, 27. Turek S. Orthopedic principles and their application.
Shimomura Y, Christiano AM. Polyalanine repeat Philadelphia: Lippincott; 1967.
expansion mutations in the HOXD13 gene in 28. Buck-Gramcko D, Behrens P. Classification of poly-
Pakistani families with synpolydactyly. Clin Genet. dactyly of the hand and foot. Handchir Mikrochir
2009;76:300–2. Plast Chir. 1989;21:195–204.
17. Akarsu AN, Stoilov I, Yilmaz E, Sayli BS, Sarfarazi 29. Jose RM, Timoney N, Vidyadharan R, Lester
M. Genomic structure of HOXD13 gene: a nine poly- R. Syndactyly correction: an aesthetic reconstruction.
alanine duplication causes synpolydactyly in two J Hand Surg Eur. 2010;35:446–50.
unrelated families. Hum Mol Genet. 1996;5:945–52. 30. Lundkvist L, Barfred T. A double pulp flap technique
18. Goodman FR, Mundlos S, Muragaki Y, Donnai for creating nail-folds in syndactyly release. J Hand
D, Giovannucci-Uzielli ML, Lapi E, et al. Surg Br. 1991;16:32–4.
Synpolydactyly phenotypes correlate with size of 31. Buck-Gramcko D. Pollicization of the index finger.
expansions in HOXD13 polyalanine tract. Proc Natl Method and results in aplasia and hypoplasia of the
Acad Sci. 1997;94:7458–63. thumb. J Bone Joint Surg Am. 1971;53:1605–17.
19. Goodman F, Giovannucci-Uzielli ML, Hall C, 32. Flatt A. Practical factors in the treatment of syndac-
Reardon W, Winter R, Scambler P. Deletions in tyly. In: Symposium on reconstructive hand surgery,
HOXD13 segregate with an identical, novel foot vol. 9. St Louis: Mosby; 1974. p. 144–56.
malformation in two unrelated families. Am J Hum
Genet. 1998;63:992–1000.
 Thumb Polydactyly
9
Christianne van Nieuwenhoven
and Steven Hovius

Abstract ous structures, flexor and extensor tendons can

have aberrant insertions and connections. The
Thumb polydactyly or radial polydactyly is a
primary operation is the major one, addressing
congenital hand difference in which the
to all differences and avoiding corrective oper-
patient presents with an extra digit at one or
ations later in life.
two thumbs. Together with syndactyly, clinod-
actyly and camptodactyly, thumb polydactyly
Keywords
is one of the most common congenital upper
extremity differences. Radial polydactyly · Thumb · Congenital
To structure the variable phenotypic pre- Surgical treatment
sentations of thumb polydactyly, several clas-
sification systems can be used. The most
widely used is the Wassel classification, fol- 9.1 Introduction
lowed by the Rotterdam classification includ-
ing different triphalangeal thumb phenotypes Thumb polydactyly, also radial polydactyly,
as well. Later evaluation of postoperative refers to the disorder in which patients have an
results of the different types of thumb poly- extra digit at the thumb aspect of the hand on at
dactyly will be influenced by the choice in least one extremity. Polydactylous hands and
classification made. footprints have been found when studying rock
In this chapter, the examination at first con- art and petroglyphs, some dated 1000ad. The
sultation is described since it is important to first time that polydactyly was referred to in lit-
perform this systematically, not missing out erature was in the Old Testament, where in a
on less conspicuous differences or even differ- battle in Gath, a giant had six fingers on each
ences on the contralateral hand. hand, and six toes on each foot. A Dutch anato-
However seen as a relatively simple differ- mist and alchemist, Theodor Kerckring, first
ence, its treatment can be very complex. The described the difference in the seventeenth cen-
goal is to obtain a functional thumb, without tury. Since then, many reports have been made on
instability and deviation, and is aesthetically polydactyly. The preaxial polydactyly can be
close to normal. Except for the abnormal osse- separated into five types according genetic litera-
ture: thumb polydactyly; polydactyly of a tripha-
C. van Nieuwenhoven (*) · S. Hovius
langeal thumb; polydactyly of an index finger;
Erasmus Medical Center Rotterdam, polysyndactyly and hallux polydactyly [1]. For
Rotterdam, The Netherlands this chapter, the focus will be directed toward the
e-mail: [Link]@[Link]

© Springer Nature Switzerland AG 2023 101

G. Pajardi (ed.), Pediatric Hand Surgery, [Link]
102 C. van Nieuwenhoven and S. Hovius

thumb polydactyly. Polydactyly with a triphalan- tion, preaxial polydactyly characterized accord-
geal thumb will be described in the chapter on the ing to the OMT classification [2] was seen in 124
triphalangeal thumb. out of the 954 diagnoses with 29% bilaterally
According to the OMT classification, poly- affected patients and 39% only right side affected
dactyly of the hand is a Malformation with an and 32% only left side affected hands.
Abnormal axis formation/difference of the Thumb polydactyly mostly occurs as an iso-
Handplate, Radioulnar axis (2iii) [2]. Previously, lated and sporadic anomaly, however, in the
polydactyly was categorized as radial, central Online Mendelian Inheritance in Man (‘OMIM’)
and ulnar polydactyly in the modified Swanson database, it is mentioned as part of over 125 dis-
classification in group III, Duplications as Radial tinct syndromes and phenotypical associations,
polydactyly including triphalangeal thumb [2]. In including Holt–Oram syndrome, Townes–Brocks
the OMT classification, ulnar polydactyly has syndrome and Fanconi’s anaemia. In our popula-
been categorized in the same group as the radial tion, cases were additionally associated with cra-
polydactyly, whereas the central polydactyly was niofacial syndromes, Greig cephalosynpolydacyly,
proposed to be part of the unspecified axis iii. Nager, Klippel–Feil and VACTERL. In the
complex recently by Baas et al. [3]. Human Phenotype Ontology (HPO) database,
Together with syndactyly, clinodactyly and preaxial hand polydactyly as a patient’s feature is
camptodactyly, thumb polydactyly is one of the related to 59 different diagnoses. Therefore, mul-
most common congenital upper extremity differ- tidisciplinary knowledge on the phenotypes and
ences seen by dedicated congenital hand syndromes is in our opinion mandatory to treat
specialists. these patients with a high quality of care.
The incidence of polydactyly depends on the
population studied and the definition used.
Region, ethnicity and combined numbers of all 9.2 Embryology and Genetics
polydactylies, or only radial or ulnar-sided poly-
dactyly, provide very different incidences in pub- CULAs arise during upper limb development,
lished series. The incidence is estimated to be which takes place between the fourth and eighth
0.3–3.6 per 1000 live births and 1.6–10.7 per weeks of gestation. During these 4 weeks, a fully
1000 in the general population [4, 5], with males functional hand is formed along three axes of
twice as often affected as females. Variability in development: The proximal–distal axis, the dor-
incidence is based on the population studied and sal–ventral axis and the anterior–posterior (or
the definition used for thumb polydactyly. It is ‘radial–ulnar’) axis. Growth and differentiation
believed that the incidence of thumb polydactyly of tissue along the axes are orchestrated through
with or without a triphalangeal component is genetic and molecular signalling pathways,
highest in people of Asian descent. Thumb poly- which arise from areas of specialized cells in the
dactyly represents up to 90% of all polydactyly limb bud called ‘signalling centres’ [7–9].
cases in the Chinese population [6]. In the development of polydactyly, the radial–
In a recent Swedish population study, the ulnar axis is the most important. This axis is
thumb polydactyly is mentioned to have a rela- formed along the Zone of Polarizing Activity
tive incidence of 2.3 per 10,000 live births. The (‘ZPA’), where Sonic Hedgehog (‘SHH’) pro-
thumb polydactyly without a triphalangeal com- teins regulate ulnarization and widening of the
ponent was predominantly present in the male limb (Fig. 9.1) [10]. Disruption of SSH signalling
population (58%) with 56% on the left side and pathways may result in radial polydactyly.
15% bilaterally in this study [4]. In approxi- Moreover, mutations of SHH and GLI3 are asso-
mately 24% of cases, thumb polydactyly has an ciated with various phenotypes of radial polydac-
inherited pattern. Associated anomalies were tyly [11–13] and triphalangeal thumb [14–18].
seen in 22% of cases [4]. In our patient popula- The complex genetic and molecular interactions
9 Thumb Polydactyly 103

Fig. 9.1 Rotterdam classification for polydactyly

result in a highly variable clinical presentation of aesthetics with regard to manual ability, partici-
radial polydactyly, ranging from a rudimental pation and quality of life in patients with thumb
skin tag to very complex triplications of the polydactyly are scarce.
thumb. Nowadays, a growing number of polydacty-
lies are seen with increasing ultrasound tech-
niques and experience of examiners. Therefore,
9.3 Patient Presentation more parents might be referred to a congenital
hand team to have more information on the dif-
The disorder is easily detected after birth leading ference and possible associated syndromes.
to a cosmetic and functional concern with the
parents and if not treated, to cosmetic concern of
the affected child. Additionally, depending on the 9.4 Classification
level of the duplication, it can cause functional
impairment. Most parents or patients will pursue As mentioned before, polydactyly can be
surgery for restoring functional anatomy, arranged according to a genetic classification into
however, affected by abnormal embryological
­ five types or classified as a part of the congenital
development of osseous structures and soft tis- hand differences in the OMT. These classifica-
sues, normal aesthetic and functional results are tions might give information on the genetic and/
not to be expected. Results on functionality and or embryologic nature of the difference, but it
104 C. van Nieuwenhoven and S. Hovius

doesn’t give information on the phenotype and types of thumb polydactyly was investigated,
possible related surgical treatment options. evaluating a total of 520 available X-rays from
In order to structure the variable phenotypic both units from the period 1980 to 2012. Both the
presentation, thumb polydactyly cases can be cat- Wassel and Rotterdam classifications were
egorized using different types of phenotypic-­ applied. A comparative historical cohort was
based classification systems. In choosing such a extracted from the literature, pooling 1723 eligi-
classification system, later evaluation of the ble cases of thumb polydactyly to describe the
results of the different types of thumb polydac- frequency of the different types reported in the
tyly is influenced by this choice. literature. A large part (40%) of the studied popu-
Since soft tissue anomalies are harder to visu- lation could not be classified using the Wassel
alize, most classification systems are based on classification, compared to 6% studied in the lit-
osseous configuration, which can be shown using erature. However, all study cases could be classi-
X-rays. These classification systems play an fied using the Rotterdam classification. All the
important role in communication between spe- unclassifiable cases had aberrant components:
cialists, in the evaluation of treatment outcomes, triphalangeal, deviating and hypoplastic. This
and in supporting clinical decision-making. implies that the Rotterdam classification is more
However, in using the osseous-based classifica- suited for describing the entire spectrum of
tion systems, one should not overlook the addi- thumb polydactyly and guidance in surgical treat-
tional soft tissue differences. ment. Both classifications show a good overall
The most widely used system for thumb poly- intra-observer and fair inter-observer reliability
dactyly is the Wassel classification [19]. Seven regardless of the experience of the person using
types of osseous configurations are described: the classification system.
types I–VI represent distal-to-proximal levels of According to these results, the Rotterdam
thumb polydactyly, while type VII represents classification is best suited for research purposes,
thumb polydactyly with a triphalangeal compo- even if an inexperienced observer performs anal-
nent. The three most common types of radial ysis. However, for daily practice in non-research
polydactyly are type IV (30–46%), type II environment, the use might be too
(9–25%) and type VII (7–32%), with varying time-consuming.
occurrence across different case series, e.g. areas
in the world.
This classification is easy to apply, but the 9.5 Physical Examination
clinical relevance is limited by the inability to
classify surgically important features of radial At first consultation, following medical history
polydactyly (e.g. diverging components or hypo- and general physical examination, both upper
plasia), features that influence outcome. This has limbs are examined, and if indicated or a syn-
led to the introduction of many alternative clas- drome is expected, the lower limbs as well. If the
sification systems [20, 21], such as the Rotterdam fingers are normal, with normal hand and finger
classification for radial polydactyly [20], inte- creases, and a normal hypothenar region, the
grating elements of the Wassel [19], Buck-­ examination can focus on the radial side of the
Gramcko [22], and Upton [23] classification, into hand. In our experience, it is worthwhile to per-
an all-embracing classification system for thumb form this systematically, as quite often more
polydactyly including triphalangeal components anomalies are present. Don’t be distracted by the
and triplications (Fig. 9.1) [24]. major difference, overlooking the less major
In a study, incorporating patients from two differences.
large European congenital hand units (Hamburg The examination is performed systematically.
and Rotterdam), the occurrence of the different The thenar musculature varies widely from nor-
9 Thumb Polydactyly 105

mal to severely hypoplastic. In Wassel I and II, cally attached, therefore, deviating the distal part.
the thenar musculature is mostly normal, in con- The fingertips can be either normal or asymmet-
trast to Wassel V, VI and VII. ric. The asymmetric side is typically found on the
Hypermobile joints should always be related opposing sides of the two thumbs. The nails are
to the other joints in the hands. It is important to smaller and asymmetrical in most cases. The first
look for creases on both the dorsal and palmar web is nearly always normal in the distal duplica-
sides. If creases are present, then an active move- tions. In more proximal polydactylies, the first
ment in that particular joint can be expected. web can be narrower than the normal contralat-
The CMCJ in polydactyly can be normal, stiff eral side.
or hypermobile. If abnormalities in the CMCJ are
present, they are mostly encountered in the more
proximal polydactylies. If polydactyly is situated 9.5.1 Patient Selection
at the CMCJ, the MCPJ in the best thumb can be
near normal. In these cases, the movement is Polydactylies are usually treated surgically.
dependent on the presence of a syndactyly Functional impairment can vary from slight to
between the duplication. severe, depending on the extent of the deformity.
Depending on the location of the polydactyly, Polydactylies can be a nuisance in, for example,
the MCPJ can be stiff, normal moving or hyper- shaking hands, putting hands in pockets or nar-
mobile and hypoplastic. For instance, in a poly- row spaces and in wearing gloves. However, most
dactyly involving the MCPJ, both thumbs move parents visit the outpatient clinic with their child
as a block. In most of these cases, the radial-sided for aesthetic and social reasons. In patients with a
thumb is hypoplastic and stiff, and the ulnar syndrome with serious concomitant disease, sur-
thumb is the better one. gery can be delayed or even be avoided.
Finally, the IPJ can present with normal move-
ment, stiffness or hypermobility. If the duplica-
tion is at the IPJ, both parts can move as a block. 9.5.2 Treatment/Surgical Technique
The range of motion in those cases is typically
less than in a normal IPJ. In an asymmetric dupli- Thumb polydactyly is seen as a relatively simple
cation at the IPJ, the best-developed part usually difference; however, its treatment can be very
moves better. complex. The aim of surgical intervention in
Normal examination includes extrinsic and thumb polydactyly is to obtain a functional
intrinsic movement, but difficult to perform in a thumb, without instability and deviation, and is
newborn. However, flexion and extension can be aesthetically pleasing or acceptable. Except for
evaluated, as well as the presence of palmar the abnormal osseous structure with joint incon-
abduction. In radial polydactyly, the flexor polli- gruence, the flexor and extensor tendons can have
cis longus is Y-shaped in the majority of cases, aberrant insertions, influencing the line of pull
with a less developed tendon to the most hypo- with regard to future deviations. In addition,
plastic thumb. Therefore, flexion can be seen aberrant and intricate connections may exist
simultaneously in both thumbs. Moreover, the between flexors and extensors, affecting thumb
flexor tendon can have its insertion on the radial movement. In the more proximal polydactyly
side for the ulnar thumb, and ulnar side of the types, intrinsic muscles might be hypoplastic or
radial extra thumb, causing a more deviating flex- absent. In most cases, the thumb is inadequate in
ion in the IPJ. This is especially true for the type size, width and nail development compared to the
4 and more proximal polydactylies. non-involved opposite side in unilateral cases.
The extensor apparatus is usually less devel- However, it is difficult to address these latter
oped or absent in the more hypoplastic thumb. It hypoplastic features when reconstructing a
can be Y-shaped as in the flexor and asymmetri- thumb polydactyly.
106 C. van Nieuwenhoven and S. Hovius

Taking into account all the features of recon- Table 9.1 Principles in treating thumb polydactyly
struction in thumb polydactyly surgical • “Make one thumb out of two. It is not a simple
approaches have been refined over the years. excision of one”
Different techniques to treat thumb polydactyly • Decide which thumb to be kept
• Preserve tendons, ligaments and skin of the discarded
can be identified.
thumb to align, balance and augment the residual
The timing of surgery is not fixed at a certain thumb
age. Surgery is recommended at the end of the • Perform as much correction as possible and
first year of life by many authors, as it is impor- necessary during the first operation on both soft
tant to be able to identify the structures properly tissues and bones
• Be aware of and search for less obvious anatomical
and to minimize the anaesthetic risks. In a recent anomalies
study, patients operated at an age older than • Align articular surfaces as axial and as congruent as
2 years had significantly better results than chil- possible by transverse and longitudinal osteotomies
dren before the age of 1 year regarding patient-­ • Perform ligament reconstructions or releases
reported scores. No such difference was found • Balance tendon insertions
for patients operated between ages 1 and 2 years • Adjust skin cover as accurately as possible. Excess of
skin will not disappear in time
[25]. This suggests that timing might be best after • Postoperative dressings should be meticulously
the age of 1 year only taking the results into applied, protect the reconstruction and resistant to
account, and even later if anesthesiologic and removal by the child
psychological risks are taken into account.
In the end, most essential for good long-term
good results is the knowledge of patho-­ appearance and function, as well as attention to
embryology and patho-anatomy [26, 27]. Try to pulp size and girth [28], separate techniques for
visualize aberrant anatomy without too much dis- type III reconstruction [29], support of collateral
section! In general, in evaluating results, experi- ligaments in type IV [30] and rebalancing of ten-
enced surgeons are reported to have better results dons [31].
in outcomes [25]. When analyzing literature on the long-term
outcome of thumb polydactyly treatment, only
few reports are found with overall outcome [32–
9.6 Operative Treatment 34] and one only on thumb size and appearance
[35]. In a recently published thesis, an extensive
A number of principles in the treatment of thumb analysis was performed on the outcome of surgi-
polydactyly can be listed in Table 9.1. The most cally treated thumb polydactyly [36]. Most
versatile and widely applied surgical treatment important lessons were: reporting outcome starts
for thumb polydactyly is the resection and recon- with the implementation of a reliable and all
struction technique. The majority of cases can be comprising classification for thumb polydactyly
treated using this technique, indicated whenever regarding the pre-operative situation; and the use
one of the extra thumbs is better developed than of a reliable and clinically weighted outcome
the other (floating-type thumb polydactyly assessment system [37–39]. If analyzed accord-
excepted). In most cases, the ulnar thumb is bet- ing to these conditions, type IV had worse func-
ter developed and the radial thumb is resected. tional outcomes than type II and IV-Tph if the
Resection of the radial thumb has the added ben- thumb was operated only once. However, if mul-
efit of preserving the ulnar collateral ligament, tiple surgeries were needed, an overall worse out-
playing a key role in stabilizing the MCPJ during come is to be expected. Furthermore, overall
pinch grip and prehension. Furthermore, the scar outcome significantly improves when the first
will be situated dorsally or on the radial side of operation is performed by an experienced sur-
the remaining thumb, not impeding with sensa- geon, specialized in congenital upper limb anom-
tion of the ulnar-sided pulp of the thumb. Several alies [25]. Regarding the Bilhaut–Cloquet
techniques have been described to improve procedure, this technique is not worthwhile in
9 Thumb Polydactyly 107

cases where a reconstruction is a viable option. movement along those joints in a normal fashion.
The Bilhaut–Cloquet does not give the beneficial However, in the depicted end result, one should
strength as believed because of the MCP joint take into account the initial situation, that is for
stability is improved. Furthermore, the overall instance, an ulnar thumb with deviation in the
appearance is scored less, with nail appearance MCPJ and IPJ, deviant insertions of the tendons,
being the most consistent factor [40]. with no flexion crease at the IPJ.
The surgical techniques of Wassel type II and In Fig. 9.2, the radiographic appearance of
type IV are discussed extensively in several text- four type IV polydactylies is depicted.
books. For this chapter, we would like to discuss Type IV as shown in Fig. 9.2a is a type IV H r,
the treatment of different type IV thumb polydac- implying a polydactyly at the level of the MCPJ
tylies. It is the most frequent type but does not with a hypoplastic thumb at the radial side.
have a single approach since it appears in differ- Surgical correction consists of simple ablation
ent forms. For the principles of treatment, see with inspection of the radial collateral band with
Table 9.1. respect to stability. In these cases, reefing of this
collateral band is sometimes needed.
The thumb polydactyly shown in Fig. 9.2b
9.6.1 Radial Polydactyly at seems to be equal (type IV H r) to the extra thumb
the MCPJ (Type IV) in Fig. 9.2a, however, the proximal osseous struc-
ture is more related to the first MC, whereas this
Type IV thumbs often demonstrate a hypoplastic part was not ossified at the same age in case
or smaller extra thumb on the radial side. Fig. 9.2a. During the surgical correction, atten-
However, the degree of development and involve- tion should be paid to the different soft tissue
ment of the extra thumbs varies widely, with an connections and bony structures at the MCPJ
extra thumb only attached with a skin pedicle, to level. In this case, the insertion of the thenar mus-
similar develop thumbs with deviation in the cles (outlined in Fig. 9.3a) at the base of the radial
MCPJ and IPJ. thumb is a giveaway for the need for more struc-
The operative technique is based on the previ- tural corrections than the first case. The thenar
ously mentioned principles, with as a goal to pro- muscle attachment is dissected from the base of
vide in one thumb, in alignment with the first the radial thumb and released more proximal to
metacarpal, with a stable MCPJ and IPJ and with evaluate the radial collateral band and joint sur-

a b c d

Fig. 9.2 (a–d) Four examples of type IV radial polydac- (a), however, the proximal osseous structure is more
tylies with a different aspect and therefore different surgi- related to the first MC, implicating an additional proce-
cal approaches. (a) Type IV H r, implying a polydactyly at dure (see text). (c) Type IV D r, deviation of the radial
the level of the MCPJ with a hypoplastic thumb at the thumb. (d) Type IV D r u, deviation of the radial and ulnar
radial side. (b) Type IV H r, similar to the extra thumb in thumb
108 C. van Nieuwenhoven and S. Hovius

a b

c d

Fig. 9.3 (a–d) Surgical correction of a type IV D r poly- thumb to adjust the with and prevent future osseous bulg-
dactyly. (a) The insertion of the thenar muscles attached at ing (green). The thenar muscle and collateral band previ-
the base of the radial thumb, and dorsal joint capsule ously attached to the proximal phalanx of the radial thumb
(lifted in pincers). (b) Metacarpal head of the radial thumb (black). (d) After reconstruction of the collateral band and
with an insufficient radial collateral band. (c) After longi- thenar muscle to the radial base of the proximal phalanx
tudinal osteotomy of the metacarpal head of the radial of the ulnar thumb

face. In this case, the radial collateral band was has reached its maximal stability, and full exer-
insufficient and a joint surface for the radial tion on the reconstructed ligament is allowed.
thumb was present (see Fig. 9.3b). Neglecting Therefore, we recommend a gradual increase in
this presence will result in an instable thumb with load to this joint reconstruction, with a normal
an osseous prominence on the radial side at the load allowed, 3 months after the operation.
distal first metacarpal level. Therefore, a longitu- The case in Fig. 9.2c, type IV D r, is approached
dinal osteotomy needs to be performed (see in the same fashion as above. However, the osse-
Fig. 9.3c) in line with the joint surface of the ous alignment of the ulnar thumb should be
ulnar thumb. The joint is stabilized by reinsertion inspected, as well as the insertions of the flexor
of the collateral band to the base of the radial side and extensor tendon of the ulnar thumb.
of the ulnar thumb (see Fig. 9.3d). Whereas the Especially in the presence of a more distal syn-
previous example doesn’t need postoperative dactyly between the ulnar and radial thumb. In
immobilization, this case will need immobiliza- the case of a type IV D r u, as depicted in
tion and protection up till 3 months after the Fig. 9.2d, a correction osteotomy of the first MC
intervention for high-impact activities. and basal phalanx is necessary, together with
Postoperative protocols differ in congenital hand reconstruction of the joint surface of the MCPJ,
centres regarding the time needed for immobili- radial collateral band of the MCPJ and IPJ, as
zation before a period of protection with a splint well as reattachment of the flexor and extensor
is introduced. However, it will take approxi- tendons. This technique is described in detail by
mately 3 months until the radial collateral band the authors in different textbook chapters [41].
9 Thumb Polydactyly 109

9.6.2 Postoperative Care Avoidable outcomes in type II relate to inap-

propriate alignment, resulting in nail deformities,
The reconstructed thumb is immobilized for scarring at the nail wall, and residual nail devel-
4–6 weeks, allowing finger movement in the ban- opment. If the collateral ligament is constructed
dage. Following the initial 4–6 weeks and with cartilage or a small piece of bone from the
depending on the level and complexity of the excised phalanx, new formation of bone can be
reconstruction, further treatment consists of the result. At the IPJ, incongruent alignment
uninhibited full motion to a removable splint for causes deviation, instability or stiffness. Too
several weeks. The child will exercise in play, much resection at the base of the distal phalanx
and therefore hand therapy under supervision is damages growth of the remaining distal phalanx.
not necessary. In a simple, ‘floating type’ hypo- In the unavoidable outcome in type IV, the
plastic thumb polydactyly, with no reconstruc- residual thumb is always lesser developed than
tion of tendons or ligaments needed, a bandage is the normal contralateral thumb. The pulp is often
given for 2 days, as in regular wound care. less developed, the nail is usually smaller, and
motion can vary from nearly normal to stiff,
especially at the IPJ. Goldfarb found only a dif-
9.6.3 Outcomes, Prognosis ference in nail width; however, motion was not
and Complications taken into account in this study. But even though
the thumb appears smaller, patients are satisfied
When reconstruction in a congenital hand is per- as long as it is well-shaped.
formed, definitive outcome can only be assessed Avoidable outcomes in type IV also relate to
after growth has been completed. Therefore, it is inappropriate alignment. IPJ and MCPJ angula-
advisable to check children several times during tion decreases the aesthetic outcome. Deviations
growth, preferably after growth spurts. At our at either the IP or MP joint can mostly be pre-
outpatient clinic, examination is performed thor- vented at initial operation by aligning the articu-
oughly, in such a way that the modified JSSH lar surfaces and balancing the thumb properly.
classification for postoperative results in thumb Too much resection at the MP joint results in
polydactyly can be filled out [37]. Specific atten- growth disturbances at the proximal phalanx of
tion is paid to nail deformities, movement and the remaining thumb. In late S- and zig-zag
stability of joints, active range of motion, appear- deformities, proper initial alignment has not been
ance, broadness and malalignment of the skin. accomplished. Residual unstable IP- or MCPJs
Older children and parents hardly complain of can develop following improper ligamentous
lack of function even though joints can be stiff reconstruction and tendon alignment at the initial
[36]. Painful thumbs are very rare, although we stage.
did see occasionally problems with sustained Evaluating the reported outcome in thumb
writing. However, they do complain more about polydactyly according to the current standard is a
appearance, after they present with an insignifi- challenge due to the different tools used. In clas-
cant functional complaint. Especially teenagers sifying thumb polydactyly, most will choose the
visit the outpatient clinic wishing for an esthetic Wassel classification. But since not all thumb
improvement. polydactylies can be classified according to this
Outcome can be divided into unavoidable and osseous anatomy-based classification, authors
avoidable results. In the unavoidable outcome in choose to modify it, all in a different manner. As
type II, the distal part of the thumb can be from a result, the base for being able to compare results
nearly normal to hypoplastic, depending on the of different types of thumb polydactyly is unde-
initial presentation. Insufficient pulp, smaller fined, leading to incomparable evaluations of
nails and less developed IPJs are inevitable. In patient groups. The second step in evaluating out-
nail bed reconstructions, the nail will never be come is choosing the right outcome assessment
completely normal. system, since reported results in the treatment of
110 C. van Nieuwenhoven and S. Hovius

thumb polydactyly are dependent on the avail- 4. Ekblom AG, Laurell T, Arner M. Epidemiology
able tools used [39]. To be able to report valid of congenital upper limb anomalies in 562 chil-
dren born in 1997 to 2007: a total population
and generalizable outcomes, the importance of study from Stockholm, Sweden. J Hand Surg Am.
the different items in assessment schemes should 2010;35(11):1742–54.
be weighted carefully, defined by careful statisti- 5. Goldfarb CA, Wall LB, Bohn DC, Moen P, Van Heest
cal analysis as is performed for the modified AE. Epidemiology of congenital upper limb anomalies
in a Midwest United States population: an assessment
JSSH outcome measure [37]. using the Oberg, Manske, and Tonkin classification. J
In an era of value-based health care, evaluat- Hand Surg Am. 2015;40(1):127-32.e1-2.
ing surgical result is the first step, followed by 6. Leung PC, Chan KM, Cheng JC. Congenital
patient-related outcome measures such as manual anomalies of the upper limb among the Chinese
population in Hong Kong. J Hand Surg Am.
ability, participation and quality of life. The 1982;7(6):563–5.
reduced strength in thumb polydactyly patients 7. Bamshad M, Watkins WS, Dixon ME, Le T, Roeder
does not influence their manual ability. However, AD, Kramer BE, et al. Reconstructing the history of
the current questionnaires available for thumb human limb development: lessons from birth defects.
Pediatr Res. 1999;45(3):291–9.
polydactyly or hand differences as a whole are 8. Riddle RD, Tabin C. How limbs develop. Sci Am.
not specific and sensitive for the detection of 1999;280(2):74–9.
activities that patients won’t be able to perform. 9. Riddle RD, Ensini M, Nelson C, Tsuchida T, Jessell
Are we asking the right questions? And do we TM, Tabin C. Induction of the LIM homeobox gene
Lmx1 by WNT7a establishes dorsoventral pattern in
need these results in shared-decision-making? the vertebrate limb. Cell. 1995;83(4):631–40.
Therefore, a group of congenital hand surgeons 10. Riddle RD, Johnson RL, Laufer E, Tabin C. Sonic
worked on an ICHOM evaluation set for congeni- hedgehog mediates the polarizing activity of the
tal hand differences. This will give caregivers the ZPA. Cell. 1993;75(7):1401–16.
11. Radhakrishna U, Bornholdt D, Scott HS, Patel UC,
opportunity to collect data on patient-reported Rossier C, Engel H, et al. The phenotypic spectrum
outcomes based on the same questionnaires, gen- of GLI3 morphopathies includes autosomal domi-
erating outcomes that will be comparable world- nant preaxial polydactyly type-IV and postaxial
wide and giving direction in how to treat these polydactyly type-A/B: no phenotype prediction from
the position of GLI3 mutations. Am J Hum Genet.
patients. 1999;65(3):645–55.
Most importantly, the primary operation for 12. Debeer P, Peeters H, Driess S, De Smet L, Freese K,
children with thumb polydactyly is the major Matthijs G, et al. Variable phenotype in Greig cepha-
one, not performing surgery before 1 year of age, lopolysyndactyly syndrome: clinical and radiologi-
cal findings in 4 independent families and 3 sporadic
correcting all differences and avoiding revision cases with identified GLI3 mutations. Am J Med
surgery, by experienced congenital hand Genet. 2003;120A(1):49–58.
surgeons. 13. Lettice LA, Hill RE. Preaxial polydactyly: a model for
defective long-range regulation in congenital abnor-
malities. Curr Opin Genet Dev. 2005;15(3):294–300.
14. Swanson AB, Brown KS. Hereditary triphalangeal
References thumb. J Hered. 1962;53:259–65.
15. Farooq M, Troelsen JT, Boyd M, Eiberg H, Hansen
1. Orioli IM, Castilla EE. Thumb/hallux duplication L, Hussain MS, et al. Preaxial polydactyly/triphalan-
and preaxial polydactyly type I. Am J Med Genet. geal thumb is associated with changed transcription
1999;82(3):219–24. factor-binding affinity in a family with a novel point
2. Tonkin MA, Oberg KC. The OMT classification of mutation in the long-range cis-regulatory element
congenital anomalies of the hand and upper limb. ZRS. Eur J Hum Genet. 2010;18(6):733–6.
Hand Surg. 2015;20(3):336–42. 16. Wieczorek D, Pawlik B, Li Y, Akarsu NA, Caliebe A,
3. Baas M, Stubbs AP, van Zessen DB, Galjaard RH, May KJ, et al. A specific mutation in the distant sonic
van der Spek PJ, Hovius SER, et al. Identification hedgehog (SHH) cis-regulator (ZRS) causes Werner
of associated genes and diseases in patients with mesomelic syndrome (WMS) while complete ZRS
congenital upper-limb anomalies: a novel applica- duplications underlie Haas type polysyndactyly and
tion of the OMT classification. J Hand Surg Am. preaxial polydactyly (PPD) with or without triphalan-
2017;42(7):533–45 e4. geal thumb. Hum Mutat. 2010;31(1):81–9.
9 Thumb Polydactyly 111

17. Klopocki E, Ott CE, Benatar N, Ullmann R, Mundlos with two digits equal in size. J Hand Surg Am.
S, Lehmann K. A microduplication of the long range 2009;34(10):1802–7.
SHH limb regulator (ZRS) is associated with tripha- 30. Engelhardt TO, Baur EM, Pedross F, Piza-Katzer
langeal thumb-polysyndactyly syndrome. J Med H. Supporting the collateral ligament complex in
Genet. 2008;45(6):370–5. radial polydactyly type Wassel IV. J Plast Reconstr
18. Sun M, Ma F, Zeng X, Liu Q, Zhao XL, Wu FX, et al. Aesthet Surg. 2013;66(1):104–12.
Triphalangeal thumb-polysyndactyly syndrome and 31. Xu YL, Shen KY, Chen J, Wang ZG. Flexor pol-
syndactyly type IV are caused by genomic duplica- licis longus rebalancing: a modified technique for
tions involving the long range, limb-specific SHH Wassel IV-D thumb duplication. J Hand Surg Am.
enhancer. J Med Genet. 2008;45(9):589–95. 2014;39(1):75–82 e1.
19. Wassel HD. The results of surgery for polydac- 32. Stutz C, Mills J, Wheeler L, Ezaki M, Oishi S. Long-­
tyly of the thumb. A review. Clin Orthop Relat Res. term outcomes following radial polydactyly recon-
1969;64:175–93. struction. J Hand Surg Am. 2014;39(8):1549–52.
20. Zuidam JM, Selles RW, Ananta M, Runia J, Hovius 33. Patel AU, Tonkin MA, Smith BJ, Alshehri AH,
SE. A classification system of radial polydactyly: Lawson RD. Factors affecting surgical results of
inclusion of triphalangeal thumb and triplication. J Wassel type IV thumb duplications. J Hand Surg Eur.
Hand Surg Am. 2008;33(3):373–7. 2014;39(9):934–43.
21. Kim JK, Al-Dhafer BAA, Shin YH, Joo 34. Ogino O, Tsuchida H, Kashiwa H, Ishigaku D,
HS. Polydactyly of the thumb: a modification of Takahara M. Thumb polydactyly. Tech Hand Up
the Wassel-Flatt classification. J Hand Surg Eur. Extrem Surg. 1999;3(4):278–85.
2021;46(4):346–51. 35. Goldfarb CA, Patterson JM, Maender A, Manske
22. Buck-Gramcko D. Congenital malformations of the PR. Thumb size and appearance following recon-
hand and forearm. Chir Main. 2002;21(2):70–101. struction of radial polydactyly. J Hand Surg Am.
23. Upton J, Shoen S. Triphalangeal thumb. In: Gupta 2008;33(8):1348–53.
A, Kay SP, Scheker LR, editors. The growing hand, 36. Dijkman R. Radial polydactyly: double or nothing?
diagnosis and management of the upper extremity in Rotterdam: Erasmus University; 2016.
children. 1st ed. London: Mosby; 2000. p. 255–68. 37. Dijkman R, Selles R, van Rosmalen J, Hulsemann W,
24. Hu CH, Thompson ER, Agel J, Bauer AS, Moeller Mann M, Habenicht R, et al. A clinically weighted
AT, Novotny SA, et al. A comparative analysis of 150 approach to outcome assessment in radial polydac-
thumb polydactyly cases from the CoULD registry tyly. J Hand Surg Eur. 2016;41(3):265–74.
using the Wassel-Flatt, Rotterdam, and Chung clas- 38. Dijkman RR, van Nieuwenhoven CA, Selles RW,
sifications. J Hand Surg Am. 2021;46(1):17–26. Habenicht R, Hovius SE. A multicenter comparative
25. Dijkman RR, van Nieuwenhoven CA, Hovius SE, study of two classification systems for radial polydac-
Hulsemann W. Clinical presentation, surgical treat- tyly. Plast Reconstr Surg. 2014;134(5):991–1001.
ment, and outcome in radial polydactyly. Handchir 39. Dijkman RR, van Nieuwenhoven CA, Selles RW,
Mikrochir Plast Chir. 2016;48(1):10–7. Hovius SE. Comparison of functional outcome
26. Saito S, Tsuge I, Yamanaka H, Morimoto N. Soft tis- scores in radial polydactyly. J Bone Joint Surg Am.
sue abnormalities in Wassel type VI radial polydac- 2014;96(6):463–70.
tyly: a detailed anatomical study. J Hand Surg Eur. 40. Dijkman RR, Selles RW, Hulsemann W, Mann M,
2021;46(4):352–9. Habenicht R, Hovius SE, et al. A matched compara-
27. Crowley B, Stevenson S, Diogo R. Radial polydac- tive study of the Bilhaut procedure versus resection
tyly: putting together evolution, development and and reconstruction for treatment of radial polydactyly
clinical anatomy. J Hand Surg Eur. 2019;44(1):51–8. Types II and IV. J Hand Surg Am. 2016;41(5):e73–83.
28. Dautel G, Perrin P. Use of an axial flap to increase 41. Hovius S, van Nieuwenhoven CA. Congenital hand
the girth of Wassel IV thumb reconstructions. J Hand IV: syndactyly, synostosis, polydactyly, camptodac-
Surg Am. 2015;40(7):1327–32. tyly, and clinodactyly. In: Chang J, Neligan PC, edi-
29. Horii E, Hattori T, Koh S, Majima M. Recon- tors. Plastic surgery. 4th ed. Elsevier; 2018.
struction for Wassel type III radial polydactyly
 Ulnar Polydactyly
10
Scott N. Oishi and Terri Beckwith

Abstract Keywords

Ulnar polydactyly is the most common form Ulnar polydactyly · Postaxial · Pediatric hand
of polydactyly among the pediatric popula- Congenital hand · Type A · Type B
tion. The polydactylous digits are develop-
mentally classified as Type A or Type B, with
Type B more prevalent. Type A is more rare 10.1 Introduction
and is occasionally associated with syndromic
conditions, thus a thorough initial evaluation Ulnar polydactyly is a congenital hand difference
is mandatory to assess for the possible associ- frequently encountered in a pediatric hand sur-
ated findings. For those patients requiring gery practice. The incidence is estimated at about
general anesthesia (Type A and wide-based 1 in 1300 live births [1].
Type B), delay until at least 1 year of age is The general classification system currently
recommended to decrease potential anesthesia used was developed by Temtamy and McKusick
risk. Many Type B ulnar polydactylies can be [2]. They categorized them into Type A and Type
treated in the clinic without the use of general B based on the development of the polydactylous
anesthesia and can be performed within days digit. Type B refers to a supernumerary digit that
of birth. The appropriate evaluation of these is rudimentary and loosely attached. Type A
patients is mandatory in order to provide the refers to a polydactylous digit that is well-­
best reconstructive option for them. developed and connects to the bony elements of
the hand. Type B ulnar polydactyly is much more
common than Type A and occurs ten times as fre-
quent in individuals of African descent in which
the incidence is 1 in 100 to 300 live births com-
pared to 1 in 1500 to 3000 in white children [3].
The incidence of Type A is equal between indi-
S. N. Oishi (*) viduals of African descent and Caucasians [4].
Texas Scottish Rite Hospital for Children, In general, Type B ulnar polydactyly is an iso-
Dallas, TX, USA
e-mail: [Link]@[Link]
lated finding which can have a strong autosomal
dominant inheritance pattern, affecting the feet as
T. Beckwith (*)
Center for Excellence in Hand, Upper Extremity and
well as the hands. In contrast, Type A ulnar poly-
Microvascular Surgery, Texas Scottish Rite Hospital, dactyly has been associated with syndromes such
Dallas, TX, USA as Greig’s, Bardet–Biedl, Ellis–van Creveld,
e-mail: [Link]@[Link]

© Springer Nature Switzerland AG 2023 113

G. Pajardi (ed.), Pediatric Hand Surgery, [Link]
114 S. N. Oishi and T. Beckwith

Table 10.1 Subtypes of Type A ulnar polydactyly of the hand [6]

Fully
Type A Ulnar Metacarpal Phalangeal Intercalated developed
Polydactyly type Metacarpophalangeal type type type
Subgroup (Type I) type (Type II) (Type III) (Type IV) (Type V) Unclassified Total
Number of patients 19 20 4 5 4 2 49a
Patients with 12 (63%) 4 (20%) 1 (25%) 2 (40%) 3 (75%) 1 18a
bilateral Type A
ulnar polydactyly
Patients with same 7 0 1 1 3 1 13
subgroup type
bilaterally
Patients with 7 8 0 0 1 0 16
contralateral Type B
ulnar polydactyly
Patients with 19 10 1 3 2 1 31a
combined hand and
foot postaxial
polydactyly of the
feet
a
Because of bilateral Type A cases with two different subtypes, the total number of patients does not match the summa-
tion of the different subtypes

Smith–Lemhi-Optic, McKusick–Kaufmann, and As stated above, in patients with Type A ulnar

others [5]. polydactyly, a thorough examination must be
Pritsch et al. reviewed the phenotypic presen- performed as craniofacial, musculoskeletal, car-
tation of patients with Type A ulnar polydactyly diac, renal, reproductive, and visual anomalies
and classified them based on bony anatomy may be present warranting further investigation.
(Table 10.1) [6]. Interestingly, they also found In patients with any of these associated findings,
that in patients with bilateral involvement the a referral to a geneticist would be appropriate.
type of ulnar polydactyly was not necessarily An example of this is Ellis Van Creveld syn-
symmetric. drome (chondroectodermal dysplasia) where
patients have characteristic nail, hair, and teeth
anomalies in addition to the ulnar polydactyly
10.2 Evaluation (Fig. 10.1).
More importantly greater than 50% of these
Hand surgeons are often the first practitioners to patients have a congenital heart defect and can
see these patients after birth. Although in many also have cryptorchidism (males), chest, and
instances the ulnar polydactyly is an isolated spine anomalies.
finding, it is imperative to perform a thorough In patients with straightforward narrow-based
history and physical examination on these Type B ulnar polydactyly, radiographs are not
patients at initial evaluation. In African American necessary and treatment can easily be performed
children, a strong family history of ulnar poly- in the clinic setting. In patients that require surgi-
dactyly is frequently encountered. Lower extrem- cal reconstruction, radiographs taken just prior to
ity evaluation will also frequently reveal postaxial surgery are mandatory, especially in patients with
polydactyly. Type A that will require more than just excision.
10 Ulnar Polydactyly 115

a b

Fig. 10.1 Chondroectodermal Dysplasia (a, b), clinical Radiographs showing the short, broad middle phalanges
appearance of a patient with chondroectodermal dyspla- and hypoplastic distal phalanges. (d) Clinical appearance
sia. Note the brachydactyly and small nails. (c) of sparse, fine-textured hair and short upper lip
116 S. N. Oishi and T. Beckwith

10.3 Treatment A gauze bandage is then wrapped around the

area and the patient is seen back in 2 weeks.
At first evaluation patients with Type B, ulnar When the bandage is removed, usually the digit
polydactyly must be assessed for suitability of has already auto-amputated. If there is still some
treatment at that setting. Broad-based polydacty- adherence of the digit, an 18-gauge needle bevel
lous digits are best left until after a year of age can be used for final removal. This procedure can
when the anesthetic risks related to safety issues be easily performed in the clinic and offers large
sufficiently decrease (Fig. 10.2). cost savings when compared to an outpatient sur-
In patients with narrow-based polydactyly, gical procedure.
several options exist. Suture ligature has been In our review of patients treated at our institu-
used with reliable results as far as the removal of tion with ligaclip, application the incidence of
the digit. However, significant scarring and neu- neuroma formation was 7%, which is signifi-
roma formation has been reported in up to 23.5% cantly less than that reported with the suture liga-
of cases (Fig. 10.3). tion technique [7]. No matter which technique is
Our preferred method is shown in Fig. 10.4. utilized near-normal function of the little finger is
The base is injected with 1% lidocaine then 2–3 to be expected.
appropriately size ligaclips are applied as shown.

a b

Fig. 10.2 Type B post-axial polydactyly. (a, b) Example of broad-based polydactyly not amenable to removal with
suture ligature or ligaclip application

a b

Fig. 10.3 (a, b) Neuroma formation after suture ligation

10 Ulnar Polydactyly 117

a b

c d

Fig. 10.4 Technique of ligaclip application. (a) Narrow-based Type B postaxial polydactyly. (b) Injection of the base
with 1% lidocaine. (c, b) Application of ligaclips to base of digit. (e) Two weeks after ligaclip application
118 S. N. Oishi and T. Beckwith

As discussed above, Type A ulnar polydactyly reconstruction, and tendon realignment. Pin fixa-
can present as many as different phenotypes and tion is often required as well as cast immobiliza-
each patient must be individually assessed for tion for a much longer time as compared to Type
reconstruction. In particular, symmetry may not B reconstruction (Figs. 10.5 and 10.6).
exist between hands and/or between hands and In conclusion, ulnar polydactyly is frequently
feet. A single patient may have a combination of encountered in a pediatric hand surgery practice.
Types A and B polydactylous digits or different Appropriate assessment is key to optimal
types of Type A. It is important for the parents to ­reconstruction in these patients. In patients with
understand the difference between Types A and Type A ulnar polydactyly, a high degree of
B, as many times decreased motion and stability ­suspicion for associated anomalies (syndromes)
will exist in the little finger after the reconstruc- is mandatory with appropriate further testing and
tion of Type A variants. In addition, many times referrals as indicated. After reconstruction Type
this digit is also hypoplastic when compared to a B ulnar polydactyly patients will have near-­
normal little finger. Except in rare instances, sur- normal function, whereas Type A ulnar polydac-
gery should be performed after a year of age tyly patients may not. Proper counseling of
because of the potential anesthesia consequences parents is mandatory to assure realistic goals and
that can occur as well as size of structures. expectations are agreed upon.
Reconstruction can be very complex in these
patients and can include osteotomy, ligament

Fig. 10.5 Example of Type A (Type 4) postaxial poly- insertion as well as metacarpal head chondroplasty for
dactyly. (a–c) Preoperative clinical photographs and optimum outcome. In addition, flexor and extensor tendon
radiographs. Note the well-developed digit with shared anatomy must be assessed. (d, e) After reconstruction is
metacarpal. Reconstruction of this digit involves recon- performed. Note the pin to stabilize the ligamentous
struction of the collateral ligament and hypothenar muscle reconstruction
10 Ulnar Polydactyly 119

a b

c d

e
120 S. N. Oishi and T. Beckwith

a b

c d

Fig. 10.6 Example of Type A postaxial (Type 2) poly- and flexor tendon assessment, collateral ligament recon-
dactyly. (a–e) Preoperative clinical photographs and struction and intermetacarpal ligament reconstruction.
radiographs. Successful reconstruction requires extensor Note that the reconstructed little finger is hypoplastic
10 Ulnar Polydactyly 121

References 5. Umm-e-Kalsoom, Basit S, Kamran-ul-Hassan Naqvi

S, Ansar M, Ahmad W. Genetic mapping of an auto-
somal recessive postaxial polydactyly type A to chro-
1. Staff TSRH. Disorders of the upper extremity: ulnar
mosome 13q13.3-q21.2 and screening of the candidate
polydactyly. In: Herring J, editor. Tachdjians pediatric
genes. Human genetics. 2012;131(3):415–22. Epub
orthopedics: from the Texas Scottish rite hospital for
2011/08/31
children. 4th ed. Philadelphia, PA: Elsevier Saunders;
6. Pritsch T, Ezaki M, Mills J, Oishi SN. Type A ulnar
2008. p. 556–8.
polydactyly of the hand: a classification system and
2. Temtamy SA, McKusick VA. The genetics of
clinical series. J Hand Surg Am. 2013;38(3):453–8.
hand malformations. Birth Defects Orig Artic Ser.
Epub 2013/02/23
1978;14(3):i–xviii, 1–619. Epub 1978/01/01.
7. Mills JK, Ezaki M, Oishi SN. Ulnar polydac-
3. Watson BT, Hennrikus WL. Postaxial type-B polydac-
tyly: long-term outcomes and cost-effectiveness of
tyly. Prevalence and treatment. J Bone Joint Surg Am.
­surgical clip application in the newborn. Clin Pediatr.
1997;79(1):65–8. Epub 1997/01/01
2014;53(5):470–3. Epub 2013/12/19
4. Woolf CM, Myrianthopoulos NC. Polydactyly in
American negroes and whites. Am J Hum Genet.
1973;25(4):397–404. Epub 1973/07/01
 Cleft Hand or Split Hand Foot
Malformation
11
Stéfane Guéro

Abstract
11.1 Definition
Cleft Hand or Split Hand Foot Malformation
(SHFM) is a sequence of phenotypes, from a Split hand foot malformations (SHFM) are com-
minor shortening of the central digit to a com- plex congenital malformations, fortunately rare,
plete absence of the third ray and, in the most most often of familial origin and of autosomal
severe cases, absence of two, three or four dominant inheritance. This spectacular presenta-
rays. It is a rare but spectacular presentation tion usually involves both hands and feet. SHFM
usually involving both hands and feet. is a sequence of phenotypes, from a minor short-
Inheritance is primarily autosomal dominant ening of the central digit to a complete absence of
but sporadic cases are also reported, resulting the third ray and, in the most severe cases,
from a de novo mutation/deletion/duplication. absence of two, three or four rays. The condition
Intra-familial clinical variability is the rule, was first described by Isidore Geoffroy Saint-­
with incomplete penetrance. X-linked or auto- Hilaire (1832) [1] who gave the name ectrodac-
somal recessive inheritance has also been tyly which is still used today. Many authors have
described. To date, seven subgroups of SHFM described this malformation using terminology
have been identified and seven loci are cur- such as ‘claw hand’, ‘lobster hand’ or even
rently known. Anatomical records have ‘lobster-­claw hand’ [2]; these may be descriptive
enhanced our knowledge of this group of dis- terms but they are insulting to the children and
orders of the hands and feet and allowed us to should not be used anymore. Cleft hand is accept-
improve surgical procedures and long-term able but we definitely prefer split hand foot mal-
outcomes. formation as it is shared with the Geneticists.

Keywords
11.2 Incidence
Hand · Cleft hand · SHFM · Classification
Congenital The incidence has been reported by Adrian Flatt
(1994) as 3.9% in his series of congenital hand
anomalies [3]. However, the reported incidence
S. Guéro (*) varies greatly since confusion with symbrachy-
Institut de la Main, Paris, France dactyly remains. In the most recent publications,
Paediatric Orthopaedic Unit, Hôpital Necker Enfants the incidence of SHFM varies from 1/8500 to
Malades, Université Paris Sorbonne-centre, 1/90000 living births, accounting for up to 15%
Paris, France

© Springer Nature Switzerland AG 2023 123

G. Pajardi (ed.), Pediatric Hand Surgery, [Link]
124 S. Guéro

of all limb defects, depending on the terminology hands are asymmetrical. Affections of the upper
and whether the patients were seen by surgeons limb are sometimes very different from those of
or clinical geneticists [4]. the lower limb, which is explained embryologi-
cally by the time lag between the appearance of
the buds of the upper limb and inferior. It is thus
11.3 Clinical Presentation possible to observe on the hands a median cleft
and on the lower limb a central polydactyly. We
The typical presentation of split hand is a bilat-
eral deep, central cleft of the hands (Fig. 11.1a,
b), but often with asymmetrical malformations.
Adjacent fingers are usually abnormal, broad,
deviated or rotated toward the cleft. Split hand
cannot be summarized as a simple cleft as
­additional embryological disorders such as syn-
dactyly, camptodactyly, clinodactyly with or
without delta phalanges can be encountered [5].
Fusion and duplication of rays and some trans-
verse bones, so-called ‘cross bones’ are also very
specific to SHFM [6]. Feet are also often involved,
without any correlation with the hand presenta-
Fig. 11.2 Foot anomalies. Divergence of the first and
tion (Fig. 11.2).
fifth toe is the rule. Impairment of the shoe bearing comes
Typically, the deformity involves the four very early, requiring the closure of the cleft with multiple
extremities but, on average, malformations of the metatarsal or phalanges osteotomies

a b

Fig. 11.1 SHFM, right hand. (a) Dorsal view of a SHFM with a moderate syndactyly of the first web. (b) palmar view
11 Cleft Hand or Split Hand Foot Malformation 125

will come back to this notion in the classification Table 11.1 Differences between typical cleft hand and
chapter. symbrachydactyly (atypical cleft hand) according to
Barsky. (Republished from J Hand Surg Eur Vol, 2019)
Sometimes there is cleft located on the fourth
space; these cases are even more exceptional, but Cleft hand Symbrachydactyly
Rays involve 3rd ray Three central
we will treat them in this chapter because they
digits
show similar problems, and their treatment fol- Monodactylous 5th Thumb
lows the same principle. hand
It is true that the extremely ‘bizarre’ aspect of Upper limb Bilateral Unilateral
the hands or feet has a considerable psychologi- Transmission Dominant No inheritance
inheritance
cal impact, and one of the first goals of the treat-
Central defect V shape U shape
ment should be to ‘normalize’ the overall Feet involvement Yes No
appearance of the hand and feet. But in some Syndactylies Frequent Less frequent
severe and complex forms it is not even possible Associated Yes No
to plan a surgical correction. In congenital hand anomalies
specialist meetings, most of the cases requiring
discussion are SHFM.
indication to direct parents to genetic counselling.
Indeed, a child with typical familial cleft hand or
11.3.1 Distinction Between True a cleft by de novo mutation has a high possibility
and False Median Clefts to transmit this condition to the 50% of his
descents, on the contrary symbrachydactylies are
The first classification proposed by Barsky (1964) nonhereditary, probably teratological (viral?), and
[7] was an attempt to clarify the differences the approach for the relatives is completely differ-
between ‘typical’ cleft hand and symbrachydac- ent and more reassuring.
tyly (atypical cleft hands). He described typical
cleft hand as usually involving the third ray, bilat-
eral and following an autosomal dominant inheri- 11.4 Inheritance
tance pattern. There are also unilateral forms
where the cleft is shown only on one hand, and SHFM can be inherited or sporadic. Inheritance
these cases produce confusion with symbrachy- is mostly autosomal dominant with intra-familial
dactyly type 2 or 3 of Blauth’s classification [8] clinical variability but X-linked and autosomal
modified by Foucher [9]. Anyway, the morpho- recessive forms have been reported. Sporadic
logical differences between the typical cleft hand cases can be caused by de novo mutation/chro-
(SHFM) and the atypical cleft hand – which are mosome imbalances.
symbrachydactylies [10]—have now been clearly SHFM can be isolated and associated with
established: (1) In the symbrachydactyly, the some malformations or part of a syndrome. The
‘cleft’ is U-shaped, whereas in the typical cleft, it most frequent syndromes are EEC (Ectrodactyly-­
is V-shaped. (2) If the malformation is unilateral Ectodermal dysplasia-Cleft lip and palate), LADD
and therefore does not involve the other limbs, it (Lacrimo-Auriculo-Dento-Digital), ADULT
cannot be assessed as cleft. (3) In the monodacty- (Acro-Dermato-Ungual-Lacrimal-Tooth),
lous type of symbrachydactyly, the thumb is CHARGE (Coloboma-Heart defect, Atresia choa-
absent, and the fifth ray is present. All these char- nae, Retarded growth and development-­Genital
acteristics are therefore opposed to the typical hypoplasia-Ear), VACTERL (Vertebral-Anal-
cleft hands (see Table 11.1). Diagnosis between Cardiac-Tracheal-Esophageal-­R enal-Limb
typical and atypical types is usually straightfor- defects), Cornelia de Lange [11, 12] and Smith–
ward for a hand surgeon trained in congenital Lemli–Opitz [13]. Some rare cases of SHFM have
anomalies [10]. This has not a simple connotation been ascribed to teratogens, particularly after
of classification interest, but the identity gives us exposure to retinoic acid.
126 S. Guéro

11.5 Genetic Classification difficult genetic counselling. We have summa-

rized the different types in Table 11.2 [16],
More recently, different aetiologies and sub-­ according to Sowinska-Seidler et al. SHFM1 can
groups of SHFM have been highlighted [14], appear as isolated, associated with other malfor-
based on genetic data. Sowinska-Seidler et al. mations or syndromic. It is most commonly auto-
[15] summarized the underlying genetics mecha- somal dominant and associated with deafness
nisms. Indeed, seven subgroups have been (35%) or ectodermal dysplasia. Autosomal reces-
identified as follows: SHFM1 at 7q21.2q22.1 sive SHFM1 has also been reported in associa-
­
(DLX5 gene), SHFM2 at Xq26, SHFM3 at tion with homozygous mutations within the
10q24q25, SHFM4 at 3q27 (TP63 gene), SHFM5 DLX5 gene. SHFM2 is the only X-linked form of
at 2q31 and SHFM6 as a result of variants in SHFM and to date the underlying molecular
WNT10B (chromosome 12q13). Duplications at mechanism is unknown, although there are two
17p13.3 are seen in SHFM7 when isolated or potential candidate genes (FGF13 and TONDU).
associated with long bone deficiency. As previ- SHFM3 is the most frequent form of SHFM
ously stated above, most cases of SHFM are fol- (with SHFM7). It is autosomal dominant and
lowing an autosomal dominant pattern of non-syndromic but can be associated with pre-
inheritance (types 1, 3, 4, 5 and 7), but autosomal axial ray anomalies such as polydactyly or tripha-
recessive (type 1 and 6) and X-linked inheritance langeal thumbs. SHFM4 is also autosomal
(type 2) have also been reported. SHFM can be dominant and linked with variants within the
identified as an isolated finding but can also be TP63 gene (Fig. 11.3a–d). It can be isolated or
associated with other malformations or be part of part of EEC syndrome. SHFM5 is due to dele-
a syndromic association. Genetic heterogeneity tions encompassing the entire HOXD gene clus-
and clinical variability, even between individuals ter. However, the phenotype is unclear
from the same family, is the rule. Incomplete (synpolydactyly/Split foot) as well as the patho-
penetrance is also quite common, which leads to genesis. SHFM6 is following an autosomal reces-

Table 11.2 Different SHFM subgroups with their molecular and clinical characteristics

AD autosomal dominant, ADULT acro-dermato-ungual-lacrymal-tooth syndrome, AR autosomal recessive, EEC ectro-

dactyly-ecto-dermal dysplasis-cleft lip/plate, MR mental retardation, ND no data, SHFLD split hand foot and long bone
deficience, SHFM split hand foot malformation, DR X-linked recessive
Guero, S. and M. Holder-Espinasse, Insights into the pathogenesis and treatment of split/hand foot malformation (cleft
hand/foot). J Hand Surg Eur Vol, 2019. 44(1): p. 80–87
11 Cleft Hand or Split Hand Foot Malformation 127

sive mode of inheritance linked with homozygous molecular testing, as this will identify SHFM
mutations in the WNT10B gene. It is very rare type 4 in 10% of cases. If no underlying explana-
and apparently isolated. SHFM7 is either isolated tion is found at this stage, a karyotype should be
or associated with long bone deficiency. It is due offered to test for deletion/translocation involv-
to chromosome 17p13.3 duplication comprising ing chromosome 7 (SHFM type 1). Then, if
the BHLHA9 gene. Incomplete penetrance and inheritance appears to be autosomal recessive,
sex bias have been commonly reported in this molecular testing of WNT10 and/or DLX5 genes
particular group. When a patient is seen in a is relevant (SHFM types 1 and 6). An underlying
Clinical Genetics setting, array CGH should be explanation is currently identified in approxi-
offered as a baseline test. This would very likely mately 50–60% of cases therefore more loci are
identify a chromosome 10q24 or 17p13 duplica- likely to be identified in the future. Whole-exome
tion is around 50% of cases (SHFM types 3 and sequencing and whole genome sequencing on a
7). If negative, we would recommend TP63 gene research basis are obviously relevant, but since

a b

Fig. 11.3 Three members of a family with a SHFM type of the thumb and index. (c) X-ray of the son’s right hand
4, with mutation on TP63, severe cleft hand and cleft foot, showing the bony fusions. (d) X-ray of the daughter’s
cleft palate and lip. (a) Right hand of the father. (b) Right right hand. Tridactylous hand with absence of the index
hand of the son with a complete and complex syndactyly finger and superdigit on the ‘fourth finger’
128 S. Guéro

Fig. 11.3 (continued)

complex non-coding regulatory elements are BHLHA9 (type 7). In five patients, a chromo-
involved in such malformations, other pathways somal rearrangement was found on chromosome
need to be explored as well. The Department of 10 (type 3) but the gene involved has not been
Genetic Research of the Necker-Enfant Malades identified to date.
Hospital in Paris has recently reviewed the data
of 22 patients with SHFM. A mutation was iden-
tified in only 50% of the children. The most fre- 11.5.1 Embryological Hypothesis
quent (n = 4), was on TP63 (type 4), one patient
had a deletion on HOXD13 (type 5), another Whatever the genetic mutation, the precise patho-
deletion was found in 7q21 (type1) one on genetic processes leading to phenotypic disrup-
11 Cleft Hand or Split Hand Foot Malformation 129

tions of the normal pattern of hands and feet exposed pregnant rats to an antimitotic agent
remain unclear. Among morphogens involved in (Busulfan) at different stages and observed cen-
the formation of the autopod, DLX5 and DLX6 tral polydactyly or central clefts of various sever-
seem to be crucial for the persistence of the api- ity. His conclusion was that cleft hand and central
cal ectodermal ridge (AER) and are upregulated polydactyly are derived from the same embryo-
by TP63. In mice Tp63 Null, the AER fails to logical mechanism, and that the aetiology is pri-
stratify and the expression of the Dlx genes is marily not a failure of formation but a failure of
strongly reduced [17]. Disorders in the pathways differentiation of parts. Twice we observed, in
explain some similarities in the SHFM1 and child a medial cleft on one hand, bidactylous
SHFM4 phenotypes (EEC and developmental form, and an authentic central polydactyly on the
delay). Duijf et al. [18] have postulated that cleft other hand. Flatt [1] in his book shows an exam-
hand is primarily due to a defect in the central ple of monozygotic twins with one twin present-
part of the apical ectodermal ridge (AER) on the ing a central polydactyly, and the other twin a
autopod; this was also suggested by Naruse et al. complete absence of the third ray. Indeed, the
[19]. If the disruption of the central AER occurs radiological analysis of some SHFM distinctly
precisely on the top of the median ray, one can shows a separation in two of the third ray which
observe a central polydactyly. When the disrup- migrates on the second and/or fourth finger,
tion to the central portion of the AER becomes which evokes more a lack of separation than a
irregular and wider, the consequence is a failure real lack of formation of a ray (Fig. 11.4).
of induction of finger rays and disorganization of Ogino’s publication sparked off controversial
the formation of the precartilaginous anlagen of discussions between specialists; some decided to
the future central digits. The third or median stay with the former classification whilst others
anlage can fuse with the fourth or the second decided to modify the position of cleft hand
anlage or with both of them. In severe cases, within Swanson’s classification. More recently,
some rays can be missing. and in light of recent knowledge gained from
Another consistent finding in SHFM is the developmental biology, a new classification has
presence of extrinsic tendons and intrinsic mus- been adopted by the IFSSH, namely, the Oberg–
cles in the hand despite the absence of the bones, Manske–Tonkin or OMT classification [22].
which raises questions about the close relation- Based on the three axes of development of the
ship of bones and tendons during development. hand and upper limb, cleft hand is now classified
within the category of ‘Malformation, which is a
failure of formation/differentiation, of unspeci-
11.6 The Cleft Hand fied axis and complex’ [23]. With many col-
in the Classifications leagues, we have proposed to move SHFM to
of the Congenital Hand malformation; handplate; and proximal-distal
Anomalies axis (IB1iv).

The quarrels regarding classification and treat-

ment of cleft hand since Swanson’s classification 11.7 Classification of Clinical
(1968) [20] are in part due to the incredibly low Forms of SHFM
incidence of this disorder. In this system previ-
ously adopted by the International Federation for Concomitantly, many attempts had been made to
Surgery of the Hand (IFSSH), cleft hands were classify the different types of ‘typical’ cleft hand.
classified as ‘failure of formation of parts, longi- The most relevant have been those providing
tudinal arrest, central ray’. This remained largely guidelines for surgical treatment, such as the
unchanged until Ogino (1990) [21] published the classification by Glicenstein et al. [24] where it is
results of his experiment. In his work, Ogino divided into three groups: simple, complex and
130 S. Guéro

severe. The simple type has a more or less marked

cleft on the third ray, usually with the presence of
the third metacarpal. Complex types are associ-
ated with membranous or complex syndactylies
and/or with bone anomalies: transverse phalan-
ges (cross-bones) [6], delta phalanges and bone
fusions (Fig. 11.5). The severe types are the
three-fingered or bidactylous or monodactylous
forms (Fig. 11.6).
Another way of choosing a surgical treatment
is to consider the state of the first web, as sug-
gested by Manske and Halikis [25]. In type 1
Fig. 11.4 SHFM with fusion of the third and fourth (normal first web) or 2 (first narrow first web), a
metacarpal, moderate central cleft and fist web
syndactyly
simple treatment of the cleft and/or syndactyly of

a b

Fig. 11.5 ‘Simple closure’ of a moderate SHFM. . (a) side of the fourth. This extra tendon limits the extension of
Pre-operative X-rays showing the migration of the third the PIP joint. (c) Dorsal view demonstrating a central ten-
ray onto the fourth. (b) Per operative palmar view. Note dinous loop (blue silicone loop) and a supernumerary
the abnormal fibrous anlagen in the cleft and the remnant extensor tendon
of the flexor tendon of the third digit running on the radial
11 Cleft Hand or Split Hand Foot Malformation 131

hend and understand anatomical abnormalities.

As a rule, we must consider that growth can alter
a result that was previously thought to be good.
We must not dissociate aesthetics and function.
The surgeon can make a hand that is aesthetically
pleasing at rest but, looks abnormal during use,
such as the rotation of the fingers during flexion.
These are important notions that the surgeon
must keep in mind before proposing a therapeutic
schedule to families.
If bone abnormalities are visible on radio-
Fig. 11.6 Bilateral monodactylous hand. Feet have the graphs or CT scan with 3D reconstructions, ten-
same feature. No surgical solution. The child can write
very nicely with a bimanual grasp don abnormalities are often neglected. It is
imperative to explore the cleft and the adjacent
the first commissure is performed. In some more fingers to make the distinction between the nor-
severe cases of type 2, a translocation of the sec- mal elements of each ray and the supernumerary
ond ray on the third metacarpal will be proposed, elements which will have to be largely resected.
or we will simplify the hand resecting the second We previously had the opportunity to perform
ray to achieve a three-fingered hand. a dissection of a human specimen with SHFM
[26]. The patient presented with bilateral SHFM,
and bidactylous hands; little other information
11.8 Principle of Treatment was available. The thumbs were slightly hypo-
plastic whereas the ulnar digit was broad, proba-
As Adrian Flatt [3] said: ‘cleft hand is a func- bly resulting from the fusion of two rays
tional triumph but a social disaster’. The first sur- (superdigit) [27]. Before dissection, skeletal
gical goal is to improve the disturbing appearance radiographs of the upper limbs and computer-­
to an almost normal hand. After surgery, one ray tomographic scans with three-dimensional
might still be missing but with good closure of reconstruction of the images were performed.
­
the cleft with a minimal amount of scar and by The wrist and forearm bones were normal, but
achieving parallelism of the long fingers, the arthrosis on the proximal-inter-phalangeal joint
hand anomaly will be barely noticeable. The sec- of the most ulnar digit was noted. During the dis-
ond principle is to preserve the function by treat- section, we were able to identify all muscles and
ing the thumb web or associated camptodactyly, tendons in the forearm, even flexor and extensor
but we should never compromise the child’s for- tendons for the missing fingers. These tendons
mer function. The third principle is to combine were present in the forearm and travelled to the
the two, cosmesis and function or a ‘cosmetic hand but ended in the cleft, forming a few loops
function’ by avoiding rotation of the fingers dur- in the middle of the cleft or tendon plexuses onto
ing flexion and preserving the normal skeletal the lateral side of the two digits.
structures (bones, joints, tendons) from the dele- This observation was of major interest for our
terious effects of the additional elements (bone current practice in reconstructive surgery, as we
fusions and supernumerary tendons). noted that extrinsic flexor and extensor tendons
could be formed even in the absence of some rays
in the hand. During surgery, additional tendons
11.8.1 Tendon Anomalies could join together in the centre of the cleft and
migrate on the lateral side of the adjacent fingers
Before considering the surgical treatment of such in the presence or absence of cross-bones. These
complex hands, it is necessary first to compre- extra tendons could be partially responsible for
132 S. Guéro

camptodactyly and rotation of the adjacent fin- appearance: it will require a parallelism of the
gers during flexion. Careful division of the cleft second and fourth metacarpal, resect the third
and of the lateral side of the fingers with removal metacarpal if present, and rebuild an intermeta-
of additional tendons greatly improved the cos- carpal ligament. This is facilitated by a complete
metic and functional outcomes of patients with exploration of the fingers to identify the flexor
split hands. tendon sheeths. Their fascial expansions at the
Bone anomalies: it is necessary to remove the neck of the metacarpals must be preserved to be
abnormal elements which are more or less fused sutured at the end of the procedure.
with the adjacent fingers, especially the trans- We try to preserve the periosteum around the
verse phalanges or cross-bones which have a third metacarpal, even if there is a risk of reossi-
physeal plate often very active and whose growth fication in the following years, this ossification
can cause a divergence of neighbouring metacar- never deforms the hand. The periosteum is a very
pals, further aggravating the deformity. These resistant fabric for a ‘paletot’ suture, from the
transverse phalanges must be removed carefully, base of the metacarpals to the neck [28].
they often share joints with neighbouring meta- The procedure begins with a dorsal approach.
carpophalangeal joints (MP joints). It is advis- The skin incision itself does not require any
able to keep a limited portion of these phalanges sophisticated flap for closure. Our drawing tends
to avoid an instability of the MP joints. Delta to leave only enough skin taken from the lateral
phalanges can be treated either by osteotomy or side of the adjacent fingers to achieve a longitudi-
Vicker’s procedure. nal scar. The final level of the web will be decided
If a divergence of the metacarpal remains, the following comparisons with the other webs. We
surgeon should not hesitate to perform a closing found that attempts of local flaps ended with con-
wedge osteotomy at the base to achieve a com- tractures, imposing a revision surgery to ‘redig
plete parallelism, which will grant a harmonious the cleft’!
growth. On the contrary, in the first commissure, Neurovascular pedicles are identified, and
it will sometimes be necessary to release the careful division of the cleft is a very important
intrinsic muscles to increase the divergence step for the identification of any additional ten-
between the first and second metacarpals, or per- dons. A central loop between flexor and exten-
form a metacarpal osteotomy or, in some cases, sor tendons might be found and should be fully
remove the second metacarpal and perform an removed. We examine the normal tendons of
index translocation on to the third ray. digits 2 and 4 and then resect any abnormal
Interventions should be started early in additional tendons. In some cases, we would
infancy. Whenever possible, the first web must be observe an improvement of the flexion and rota-
corrected between 12 and 18 months. For com- tion of the PIP joints. If there remains any
plex translocations, it is not illogical to wait until abnormal flexion or rotation, we would com-
2 to 3 years old. Usually, we operate only on one pletely remove the third metacarpal bone. Our
hand to leave the child using the contralateral goal is to achieve a good parallelism of the
hand. Commonly we perform surgery on one metacarpal bones (Fig. 11.7a–d). If digits 2 and
hand and on the ipsilateral foot in the same stage. 4 remain divergent, we would consider perform-
ing a closing wedge osteotomy of the base of
one of the metacarpal bones. We carefully divide
11.9 Surgical Procedures the flexor tendon sheets at the pulley A1 level to
reconstruct the deep transverse metacarpal liga-
11.9.1 Simple Forms ment by using two ligamentous flaps made out
of the flexor tendon sheaths of the index and
In the simple type of Glicenstein or the type 1 of ring fingers to prevent future migration of the
Manske, we perform a simple closure of the cleft. fingers. Although the flexor sheaths are strong
We have seen that this ‘simple closure’ is in structures, they are insufficient for a stable clo-
11 Cleft Hand or Split Hand Foot Malformation 133

a b

c d

Fig. 11.7 Two years follow up after closure of a ‘simple performed but a straight longitudinal line of suture. (c)
cleft’. (a) Plain radiograph showing the good parallelism Dorsal view. Scar on the social face of the hand. (d)
of the second and fourth metatarsal. (b) Hand in full Fingers in flexion. No rotation thanks to the removal of
abduction. Good level of the central web. No flap has been abnormal fibrous anlagen and tendons

sure of the inter-­metacarpal space. We used to fingertips converge in flexion towards the tuber-
partially preserve the periosteum of the former cle of the scaphoid (Fig. 11.7d). An occlusive
third metacarpal bone to reconstruct two perios- bandage is left for 2 or 3 weeks in cases in which
teal flaps [28]. The dorsal aspect is closed with we have done an osteotomy. K-wires on the base
‘paletot’ sutures, using an absorbable suture of the metacarpal bones can be removed if
such as Monocryl® or PDS®, Ethicon, Cincinnati, radiographs confirm bone healing. After release
USA. After which a passive flexion force is of the first bandage, we leave the fingers free to
applied to check if the suture limits the range of move but strongly recommend a transverse ban-
motion of the MP joints. Fatty pads in the palm dage, with an elastic tape or a self-cohesive ban-
of the hand are removed to avoid any unaes- dage, at the metacarpal heads level for another
thetic folds. The skin incisions are then sutured 3 weeks to protect the closure of the inter-­
with absorbable stitches. At the end of the pro- metacarpal space. For most cases, physiother-
cedure, passive flexion of fingers is used to ver- apy is not necessary as we have allowed motion
ify that there is no more rotation and that all from the second or third week onwards.
134 S. Guéro

When all these steps are fulfilled, it is advis- palmar flap [30]. We have routinely performed
able that the result remains stable during growth. the Miura and Komada technique [31], with sat-
This harmonious four-fingered hand is hardly isfactory results (Fig. 11.8a, b), and our prefer-
noticed by relatives and friends. This agreeable ence is now for the technique as described by
reconstruction significantly reduces the psycho- Upton [32], through a distal approach to allow a
logical impact of the congenital morphological limited dorsal scar. We usually try to avoid any
condition on the child in the difficult time of dorsal incision since the dorsum of the hand is
childhood and adolescence. the part of the hand most often seen by others and
by the patient himself (Fig. 11.9).
With this technique, we obtain both functional
11.9.2 Complex Forms and natural hands and results which are stable
with growth.
For complex cases with syndactyly of the first The exploration of the cleft is the same as in
web, there are two options according to the sever- the simple closure and, before the translocation,
ity of the narrowing of the web. If the syndactyly it is necessary to remove all the supernumerary
is proximal and loose, it can be released with any elements to keep only the normal elements and
appropriate flap (Z plasty or combined Z plasties ensure a natural function to the future hand. In
or a rotation-transposition flap) in association the case of a transverse bone, we would remove it
with closure of the cleft, as described above. For partially, leaving parts of it in continuity with the
severe narrowing, the rule is to transpose the sec- metacarpal joints, in order to avoid damage to the
ond ray onto the third metacarpal bone (if pres- collateral ligaments, instability or stiffness.
ent). It is necessary to resect the distal two-thirds It is necessary, in certain cases, to correct the
of the third metacarpal and to transfer the second clinodactylies of the fingers and in particular to
metacarpal and the index on the base of the third identify ‘delta’ phalanges which are frequent in
metacarpal (as an on-top plasty) after performing the SHFM. This is often difficult on X-rays of
a microsurgical dissection of the pedicles of the very young children. If the delta phalanx is con-
index. Osteosynthesis is usually performed with firmed radiologically or, better, by ultrasound, we
two oblique K-wires at the base and sometimes can propose, before the age of 7 years, Vickers
by transverse pins joining the second and fourth procedure. This procedure consists in removing
metacarpals. We no longer use a Snow-Littler part of the C-shaped bracketed epiphysis, after
procedure [29] owing to the poor viability of the resecting an epiphyseal triangle and lateral

a b

Fig. 11.8 Complex SHFM type 7. Miura’s procedure. (a) tion. Good opening of the first web and well-balanced
Pre-operative view. Deep central cleft and syndactyly of cosmetic appearance of the hand
the first web. (b) Per-operative view after index transposi-
11 Cleft Hand or Split Hand Foot Malformation 135

grip. Sometimes we just ‘simplify’ some rays to

reduce the monstrous nature of the hand and pos-
sibly facilitate prosthetic equipment for social
life. A toe transfer would be a good option, but
feet are usually abnormal. We used this proce-
dure in two children with a monodactylous hand
and bidactylous feet. Harvesting the hallux was
much more difficult than in normal feet. The vas-
cular network was difficult to divide despite the
pre-operative angio-CT scan. One child is still
painful on the donor site. It is wise to discuss
complex malformations on a case-by-case basis
with other specialists in congenital hand surgery.
For some patients, the best option might be to
accept the situation.

11.9.4 Central Clefts of the Feet

Foot treatment deserves attention as well, and

much earlier correction than it was traditionally
thought. Children are very quickly hampered by
Fig. 11.9 Upton’s approach for index transposition and the width of the forefoot and painful calluses on
closure of the web. This distal incision gives an excellent
view on the cleft, the first web and avoid the dorsal scar the lateral faces of the toes which are found in the
plantar position. It is therefore necessary, in the
growth cartilage to the diaphyseal cancellous first years, to close the cleft by using staged oste-
bone, a small amount of fatty tissue is interposed. otomies on the metatarsals and phalanges. The
This pearl prevents a re-ossification of the brack- principle of closing the cleft is the same as at the
eted epiphysis. The locker is then released on the level of the hand.
proximal and distal physeal plate. A spontaneous
correction of the deviation is observed after a few
years [33]. If the child is too old, a reverse oste- 11.10 Conclusions
otomy can be proposed by taking a bone triangle
on the base of the triangular phalanx. The graft is Median cleft hand is a complex but rare malfor-
returned and placed in the apex of the phalanx mation requiring a multidisciplinary manage-
delta. This technique avoids the shortening cre- ment. Genetics input has recently allowed to
ated by a closing wedge osteotomy. identify seven SHFM subgroups and provide bet-
ter insight about associated malformations and
inheritance for each type. If an infant is primarily
11.9.3 Severe Types referred to a hand surgeon, a thorough clinical
examination should be carried out in order to
For severe forms with three, two or a finger, sur- identify additional malformations and/or a syn-
gical indications are discussed with the parents dromic association. Referrals for genetic coun-
and, if possible, with the child. It is sometimes selling and to various specialists might be
useful to do nothing to avoid compromising the necessary, such as paediatricians, ophthalmolo-
function. In particular, closing cleft at all costs gists, ENT, dermatologists, plastic and orthopae-
could, on the contrary, limit the possibilities of dic surgeons. Function in the cleft hand is
136 S. Guéro

impaired because of the anatomical changes but 9. Foucher G, et al. Classification and treatment of
not necessarily compromised, as children adapt symbrachydactyly. A series of 117 cases. Chir Main.
2000;19(3):161–8.
very well to most congenital malformations. 10. Miura T, Suzuki M. Clinical differences between
However, the unusual cosmetic appearance can typical and atypical cleft hand. J Hand Surg Br.
have a marked psychological impact on patients. 1984;9(3):311–5.
Surgical techniques have now allowed to improve 11. Maruiwa M, et al. Cornelia de Lange syndrome asso-
ciated with Wilms’ tumour and infantile haeman-
the hand aspects and to become ‘socially’ accept- gioendothelioma of the liver: report of two autopsy
able. It is also now possible to correct any remain- cases. Virchows Arch A Pathol Anat Histopathol.
ing stiffness by removing additional skeletal 1988;413(5):463–8.
structures and to avoid rotation when digits are 12. Pfeiffer RA, Correll J. Hemimelia in Brachmann-de
Lange syndrome (BDLS): a patient with severe defi-
flexed by modifying the abnormal tendon anat- ciency of the upper and lower limbs. Am J Med Genet.
omy. Indeed, even when rays are missing, it is 1993;47(7):1014–7.
important to bear in mind that the tendons are 13. Singer LP, Marion RW, Li JK. Limb deficiency in an
still formed and present in the cleft as a loop or infant with smith-Lemli-Opitz syndrome. Am J Med
Genet. 1989;32(3):380–3.
on the adjacent digits and would need to be 14. Gurrieri F, Everman DB. Clinical, genetic, and
addressed for a good functional result. It is there- molecular aspects of split-hand/foot malformation: an
fore important to have a good knowledge of the update. Am J Med Genet A. 2013;161A(11):2860–72.
anatomical particularities for optimal treatment 15. Sowinska-Seidler A, Socha M, Jamsheer A. Split-­
hand/foot malformation - molecular cause and
and growth stability. implications in genetic counseling. J Appl Genet.
The very severe malformations will be the 2014;55(1):105–15.
subject of discussions between the specialized 16. Guero S, Holder-Espinasse M. Insights into the patho-
surgeons and in certain cases the therapeutic genesis and treatment of split/hand foot malformation
(cleft hand/foot). J Hand Surg Eur. 2019;44(1):80–7.
abstention will be the most reasonable option. 17. Lo Iacono N, et al. Regulation of Dlx5 and Dlx6
gene expression by p63 is involved in EEC and
SHFM congenital limb defects. Development.
References 2008;135(7):1377–88.
18. Duijf PH, van Bokhoven H, Brunner HG. Pathogenesis
of split-hand/split-foot malformation. Hum Mol
1. Geoffroy Saint Hilaire I. In: Histoire générale et Genet. 2003;12:R51–60.
particulière des anomalies de l’organisation chez 19. Naruse T, et al. Early morphological changes leading
l’homme et les animaux, J.B. Baillière, editor. Paris; to central polydactyly, syndactyly, and central defi-
1832. ciencies: an experimental study in rats. J Hand Surg
2. Maisels DO. Lobster-claw deformities of the hands Am. 2007;32(9):1413–7.
and feet. Br J Plast Surg. 1970;23(3):269–82. 20. Swanson AB, Barsky AJ, Entin MA. Classification
3. Flatt AE. The care of congenital hand anomalies. 2nd of limb malformations on the basis of embryological
ed. St. Louis: Quality Medical Publishing, Inc; 1994. failures. Surg Clin North Am. 1968;48(5):1169–79.
p. 466. 21. Ogino T. Teratogenic relationship between poly-
4. Ekblom AG, Laurell T, Arner M. Epidemiology dactyly, syndactyly and cleft hand. J Hand Surg Br.
of congenital upper limb anomalies in Stockholm, 1990;15(2):201–9.
Sweden, 1997 to 2007: application of the Oberg, 22. Oberg KC, et al. Developmental biology and classifi-
Manske, and Tonkin classification. J Hand Surg Am. cation of congenital anomalies of the hand and upper
2014;39(2):237–48. extremity. J Hand Surg Am. 2010;35(12):2066–76.
5. Wood VE, Flatt AE. Congenital triangular bones in 23. Tonkin MA, et al. Classification of congenital
the hand. J Hand Surg Am. 1977;2(3):179–93. anomalies of the hand and upper limb: development
6. Wood VE. The treatment of crossbones of the hand. and assessment of a new system. J Hand Surg Am.
Handchir Mikrochir Plast Chir. 2004;36(2–3):161–5. 2013;38(9):1845–53.
7. Barsky AJ. Cleft hand: classification, incidence, and 24. Glicenstein J, Guero S, Haddad R. Median clefts of
treatment. Review of the literature and report of nine- the hand. Classification and therapeutic indications
teen cases. J Bone Joint Surg Am. 1964;46:1707–20. apropos of 29 cases. Ann Chir Main Memb Super.
8. Blauth W, Gekeler J. Morphology and classification of 1995;14(6):253.
symbrachydactylia. Handchirurgie. 1971;3(4):123–8.
11 Cleft Hand or Split Hand Foot Malformation 137

25. Manske PR, Halikis MN. Surgical classification of 30. Oberlin C, et al. Digitalization of the second finger in
central deficiency according to the thumb web. J Hand type 2 central longitudinal deficiencies (clefting) of the
Surg Am. 1995;20(4):687–97. hand. Tech Hand Up Extrem Surg. 2009;13(2):110–2.
26. Durand S, et al. Anatomic variations in a cleft hand 31. Miura T, Komada T. Simple method for reconstruc-
of an elder cadaveric specimen. Surg Radiol Anat. tion of the cleft hand with an adducted thumb. Plast
2009;31(2):145–8. Reconstr Surg. 1979;64(1):65–7.
27. Wood VE. Super digit. Hand Clin. 1990;6(4):673–84. 32. Upton J. Simplicity and treatment of the typi-
28. Dowd CN, IX. Cleft hand: a report of a case success- cal cleft hand. Handchir Mikrochir Plast Chir.
fully treated by the use of periosteal flaps. Ann Surg. 2004;36(2–3):152–60.
1896;24(2):210.2–216. 33. El Sayed L, et al. Physiolysis for correction of clino-
29. Rider MA, et al. An experience of the Snow-Littler dactyly with delta phalanx: early improvement. Hand
procedure. J Hand Surg Br. 2000;25(4):376–81. Surg Rehabil. 2019;38(2):125–8.
 Brachydactyly Types D and E
12
Zavarukhin V. Ivanovich

Abstract Keywords

The J. Bell’s classification describes two types Brachydactyly · Brachymetacarpia

of hand ray shortening, namely, brachydactyly Lengthening · Distraction · Shortening · Stub
types D and E, which have a lot in common. thumb
When a child suffers either of these diseases,
he/she is born with a hand that appears to be
absolutely healthy, but when he/she is between 12.1 Introduction
four and 7 years of age, his/her parents notice
the first signs of progressive shortening of one The J. Bell’s classification [1, 2] describes two
or several fingers. Although these pathologies types of hand ray shortening, namely, brachydac-
are differentiated as two brachydactyly types, tyly types D and E, which have a lot in common.
they are just different manifestations of the When a child suffers either of these diseases, he/
same disease with common etiology and she is born with a hand that appears to be abso-
pathogenesis, with similar complaints, and lutely healthy, but when he/she is between 4 and
with similar surgical-treatment approaches. 7 years of age [3–6], his/her parents notice the
Brachydactyly type E is shortening of one first signs of progressive shortening of one or
or several metacarpals and is also known as several fingers. Although these pathologies are
brachymetacarpia. differentiated as two brachydactyly types, they
Brachydactyly type D is shortening of dis- are just different manifestations of the same dis-
tal phalanx in the thumb where the nail plate ease with common etiology and pathogenesis,
looks extremely short but wide. with similar complaints, and with similar
Indications for surgical treatment are surgical-­treatment approaches.
mainly cosmetic for brachydactyly type E and Brachydactyly type E is shortening of one or
are only cosmetic for brachydactyly type D. several metacarpals and is also known as
The preferred treatment for both types of brachymetacarpia.
brachydactyly is distraction lengthening. Brachydactyly type D is shortening of distal
phalanx in the thumb where the nail plate looks
extremely short but wide [7].

Z. V. Ivanovich (*)
Candidate of Medical Sciences, Head of the
Department of Traumatology N3, St. Petersburg State
University Hospital, St Petersburg, Russia

© Springer Nature Switzerland AG 2023 139

G. Pajardi (ed.), Pediatric Hand Surgery, [Link]
140 Z. V. Ivanovich

12.2 Background Similar changes can occur on feet and are

known as brachymetatarsia or metatarsal short-
Brachydactyly type E (also known as ening [3, 18, 19]. The combined brachymetacar-
Brachymetacarpia) was first described in 1908 pia and brachymetatarsia occurrence rate is at
when P. Mathew reported a clinical case of least 1:1000 [5].
“hereditary brachydactyly” for a 31-year-old As to the isolated occurrence rate, brachydac-
female patient who experienced shortening of the tyly type D is a rather common disease with an
third, fourth, and fifth metacarpals on both hands occurrence rate between 0.41 and 4% in the pop-
[8]. C.P. Gillette was the first who reported in his ulation [2].
article in 1931 that a child with brachymetacarpia The J. Bell’s classification differentiates
was born with normal hands, and no progressive brachydactyly type E from type D; in addition to
ray shortening was observed until adolescence. it, we have found only a brachydactyly type E
He has described a clinical case of inherited classification suggested by Hertzog [20]. He dif-
third-metacarpal shortening on both hands. All ferentiates three kinds of brachydactyly type E
family members affected had no signs of such [20]. However, such classification does not
deformation until the age of seven [9]. Only in account for all possible forms of this pathology.
1969 surgeons paid closer attention to this We have examined 53 patients and suggested a
­disease, and the first publication appeared regard- classification for brachydactyly type E
ing metacarpal lengthening based on osteotomy (brachymetacarpia) which also includes related
and bone grafting [10]. damages to hand ray phalanxes [21].
The first reports on brachydactyly type D Brachymetacarpia classification:
appeared back in the 1920s [11, 12]. However,
we have not found any description for surgical 1. Isolated forms:
treatment of this pathology. (a) Mono-osseous forms
(b) Polyosseous forms
2. Combined forms accompanied by
12.3 Epidemiology brachydactyly:
and Classification (a) With distal-phalanx shortening of the
thumb (type D).
When describing brachydactyly type E, almost (b) With phalanx shortening of three-phalanx
all authors point out that this pathology is very fingers.
rare [4, 6] with an occurrence rate under 1 out of Examination of patients has allowed us to
1000 [5, 13] which can probably explain why determine the occurrence rate for various anat-
there are so few publications about brachymeta- omy-based brachymetacarpia forms (Table 12.1).
carpia and even less about its surgical treatment. We have established that the most common
According to many authors [3, 14, 15], metacar- form of metacarpal brachymetacarpia is the
pal shortening is more common among girls, mono-osseous one (72% of all cases). Its most
and, according to different data, the ratio common manifestations are shortening of the
between male and female patients varies fourth metacarpal (50%), fifth metacarpal
between 1:5 [5, 13] and 1:25 [16]. Most authors (18.3%), and combined shortening of the fourth
emphasize that the fourth metacarpal is the most and fifth metacarpals (12.2%). When examining
prone to this disorder [3–5, 13]. Moreover, some the occurrence rate for individual metacarpals,
authors report that shortening can affect pha- we have found that the fourth metacarpal is
lanxes of any fingers at random and in any com- affected more frequently (56.8%).
bination in addition to metacarpals [17]. Among combined brachydactyly forms, the
However, the distal phalanx of the thumb highest occurrence rate was associated with
(brachydactyly type D) is the most common tar- distal-­phalanx shortening of the thumb (brachy-
get for shortening. dactyly type D) which is 28.3%. The isolated
12 Brachydactyly Types D and E 141

Table 12.1 Occurrence rate for various brachymetacar- their results have shown that the first pathology
pia forms signs can be seen on X-ray films as early as at the
Occurrence age of two while closed growth areas can be
rate observed by the age of four, which indicates that
Brachymetacarpia forms Cases %
the bones affected keep growing after the birth,
Mono-osseous forms
Isolated shortening of the third 3 3.7
and the growth area becomes closed just in sev-
metacarpal eral years after birth [22]. At the moment, most
Isolated shortening of the fourth 41 50.0 authors tend to believe that early closure of the
metacarpal growth area is caused by an impaired mechanism
Isolated shortening of the fifth 15 18.3 of interaction between the parathyroid hormone
metacarpal
and its receptor [23].
Total 59 72
Polyosseous forms
Combined shortening of the first and 2 2.4
fourth metacarpals 12.5 Clinical Presentation
Combined shortening of third and 4 4.9 and Indications
fourth metacarpals
Combined shortening of the third and 1 1.2
fifth metacarpals Brachydactyly type E results in changes that
Combined shortening of the fourth and 10 12.2 make the patient come to the doctor; most of
fifth metacarpals them can be seen with the naked eye. At that
Combined shortening of the third, 6 7.3 time, patients notice an abnormal shape of their
fourth, and fifth metacarpals straight hand when looking at the line formed by
Total 23 28
its finger tips (Fig. 12.1). Metacarpal shortening
Combined forms accompanied by brachydactyly
With distal-phalanx shortening of the 22 26.8 is the most obvious when the head of the meta-
thumb carpal bone is pulled in (it is supposed to pro-
With phalanx shortening of three-­ 12 14.6 trude when metacarpal joints are bent) (Fig. 12.2).
phalanx fingers
Total number of hands affected by 82 100.0
brachymetacarpia:

form of this disorder occurred on the contralat-

eral hand (2.4% of all cases) and was not accom-
panied by metacarpal shortening. Combined
forms (brachymetacarpia accompanied by some
type of brachydactyly) were more common for
polyosseous forms (56.5%).

12.4 Etiology

A number of hypotheses have been proposed to

explain why one or several fingers become
shorter in several years even if the child was born
with absolutely healthy hands; their authors agree
that the metacarpal or phalanxes affected have a
progressive-shortening mechanism which is con-
nected with early epiphyseal growth-plate clo-
sure [3–6]. Medical observations were made for Fig. 12.1 Brachydactyly type E with shortening of the
children with a family history of this disease; fourth metacarpal
142 Z. V. Ivanovich

Fig. 12.2 Brachydactyly type E, the head of the fourth

metacarpal bone is pulled in

S. Temptamy and M. Aglan describe the follow- Fig. 12.3 Brachydactyly type E, “pencil test” demon-
ing clinical test for shortening of the fourth meta- strating shortening of the fourth metacarpal
carpal: When the hand forms a fist, and a pencil
touches the protruding areas of the third and For our group of 53 patients, we found that all
fourth metacarpals, it does not touch the head of of them were unhappy with the appearance of
the fourth, shortened metacarpal (Fig. 12.3). It is their hand; it was also the most common com-
also a sign which the authors suggest to look for plaint. When such complaints were analyzed
on X-ray films by drawing a straight line between according to the Visual Analog Scale, it was
the heads of the third and fourth metacarpals [2]. found that the patients were unhappy with their
Such changes make patients unhappy with the hand appearance the most when it was caused by
appearance of their hands, so the vast majority of shortening of the third, fourth, or both third and
authors describe it as the most common com- fifth metacarpals. We have found that
plaint during brachymetacarpia [4, 5, 13–15, 24, ­mono-­osseous forms are the ones which result in
25]. If it is shortening of the fourth metacarpal, the bitterest complaints about the hand
then many patients complain about their inability appearance.
to wear their wedding rings because the fourth In 28% of all cases, there were complaints
metacarpal is damaged more frequently; in addi- when certain types of load were applied. It was
tion, most patients are women [6, 13]. However, the most common complaint among patients with
while most authors agree on aesthetic indications shortening of the fourth metacarpal (62.8%); this
to surgery for brachydactyly type E (please refer symptom was also frequently observed for short-
above), many of them emphasize that such ana- ening of the fifth metacarpal (33.3%). In addi-
tomical changes cause no functional problems [4, tion, it was found that this symptom is more
5, 13, 14, 25]. common for mono-osseous forms of this
At the same time, other sources mention such disease.
complaints as MCP joint pains [15], weaker hand Rapid fatigue was observed for polyosseous
grip [4], or limited flexion in MCP joints [3, 6, forms more often than for mono-osseous ones
24, 26]. (57.1 vs. 18.0%).
12 Brachydactyly Types D and E 143

Fig. 12.4 Brachydactyly type E, limitation of fourth

MCP flexion

In addition, 12.9% all patients had special

complaints related to problems with special types
Fig. 12.5 Brachydactyly type E, X-ray of the hand with
of motor activities such as playing musical shortening of the fourth metacarpal
instruments.
All patients exhibited a limited motion range
for the MCP joints in the ray affected (Fig. 12.4);
it was caused by flexion limitations which, on an
average, were about 120° (it is a 30-degree limi-
tation as compared to the physiological
standard).
Hand-grip measurements have shown that
57.1% of all patients with brachymetacarpia have
lower results for affected hands. It has been also
noticed that the hand grip tends to be significantly
weaker among patients with polyosseous forms
of brachymetacarpia.
The X-ray analysis has shown that the average
shortening was 15.3 mm for patients older than
10 years; it is more than 25% (or 10 mm) of the
estimated metacarpal length (Fig. 12.5). Fig. 12.6 Brachydactyly type D with shortening of the
For brachydactyly type D, shorter and wider distal phalanx of the right thumb. The nail plate looks
distal phalanxes of the thumbs result in com- wider and shorter than on the left side
plaints about the thumb appearance only, which
is coined in such unpleasant slang expressions as tion; therefore, it was first described as “standing
stub thumb, shovel thumb, Dutch thumb, ham- nail deformity” [7]. The distal-phalanx shorten-
mer thumb, potter’s thumb, and even murderer’s ing is between 6 mm and 10 mm for brachydac-
thumb (Fig. 12.6). Sometimes, nail plates look tyly type D or between 30 and 50% of the normal
like a ski jump due to distal-phalanx deforma- phalanx length (Fig. 12.7).
144 Z. V. Ivanovich

Fig. 12.7 Brachydac-

tyly type D and E on the
X-ray with shortening of
the distal phalanxes of
the right thumb and both
middle fingers,
shortening of the fifth
metacarpals

We believe that any brachydactyly type E is an

absolute indication to surgical treatment if there
are function-related complaints.
Relative (aesthetic) indications to surgical
treatment are either any form of brachydactyly
type E when there are no function-related com-
plaints or brachydactyly type D.
We decided that if other bones of the hand
contain any unclosed growth plates, then it is a
contraindication to treatment (except general sur-
gical ones) because the continuing growth of
unaffected bones does not allow us to predict reli-
ably how much the bone affected should be
lengthened.

12.6 Surgery Technique (Author’s

Preferred Method)

12.6.1 Brachydactyly Type E

We employ the Ilizarov method and use our pat-

Fig. 12.8 Brachydactyly type E with shortening of the
ented distractor (Russian patent No. 2508063 of fourth metacarpal during the lengthening with external
October 31, 2011) to restore the metacarpal distractor placed on the dorsal side of the hand
length during brachymetacarpia. The distractor
should be placed on the dorsal side of the hand ­control (Fig. 12.9). There is no need to use a
(Fig. 12.8); no pins may run through the palmar wire to immobilize finger joints or fix the joints
surface of the hand or through the finger exten- in the distractor during distraction or to immobi-
sor mechanism. It is better to do osteotomy in lize it otherwise (Fig. 12.10). On the contrary,
the proximal part of the metacarpal. We perform when active or passive exercises are made in
osteotomy in a closed manner under C-Arm joints of the ray extended, it prevents lengthen-
12 Brachydactyly Types D and E 145

Fig. 12.9 Brachydactyly type E with shortening of the

fourth metacarpal. “Close” osteotomy with 2 mm
osteotome

Fig. 12.11 Brachydactyly type D with shortening of the

distal phalanx of the thumb during the lengthening with
external distractor
Fig. 12.10 Brachydactyly type E with shortening of the
fourth metacarpal during the lengthening with external
distractor without any immobilization also apply the distraction-lengthening technique
to restore an aesthetic appearance of the finger.
ing-induced stiffness. The distraction starts in 7 A tiny distractor is used for these purposes
up to 10 days with an initial rate between (Fig. 12.11); one of its benefits is that there is no
0.75 mm and 1 mm per day and is divided into need to run pins by segments because a short
three or four phases; later on, the distraction rate distal phalanx does not allow to use monolateral
can be adjusted according to the X-ray results. distractors. The pins start on the palmar surface,
The osteosynthesis index was 91.1 ± 10.6 day/ and special care should be taken to prevent the
cm in our group. The average fixation index was nail bed from damaging when running the pins
64.0 ± 10.2 day/cm. through the dorsal cortical plate. It is a closed
osteotomy procedure, and it is critical not to
damage the nail matrix (Fig. 12.12). Our dis-
12.6.2 Brachydactyly Type D traction rate is 0.5 mm per day. The total length-
ening value depends on changes in the finger
We have not found any description of surgical appearance and is, on an average, between 8 mm
treatments for brachydactyly type D in the avail- and 10 mm.
able literature. So, for brachydactyly type D, we
146 Z. V. Ivanovich

Fig. 12.13 Brachydactyly type D with callus formation

Fig. 12.12 Brachydactyly type D. X-ray at the end of the after distraction lengthening
surgery with completed osteotomy of the distal phalanx of
the thumb with external distractor

12.7 Treatment Results

For brachydactyly type E, the most common

bone-lengthening techniques are single-phase
bone grafting and the Ilizarov method [17, 26].
The sources we have examined provide contro-
versial information on the above techniques as
method of choice for surgical treatment of
brachymetacarpia.
Therefore, we have conducted a prospective
cohort study for 12 patients treated by applying
the Ilizarov method and a retrospective cohort
study for 13 patients treated by employing the
bone-grafting method to compare treatment
results.
In case of brachymetacarpia, the direct objec-
tive of surgical treatment is to restore the length
of the metacarpal shortened. The Ilizarov’s dis-
traction osteosynthesis method was applied in the
Fig. 12.14 Brachydactyly type E with shortening of the
main experimental group and allowed to com-
fourth metacarpal. X-ray after treatment by single-phase
pletely restore shortened metacarpal bones to an bone grafting. The shortening of the fourth metacarpal is
anatomic length in 100% of cases due to control- preserved
lability during the entire treatment period; the
anatomic length was calculated according to single case where anatomic metacarpal length
A. Aydinlioglu et al. [27] with an accuracy of was restored completely and that, on an average,
1 mm (Fig. 12.13). When X-ray film archives the third, fourth, and fifth metacarpals were
were examined for patients who had undergone 4.66 mm up to 5.56 mm shorter (between 8.37
surgery according to the single-phase bone-­ and 11.68%) than the estimated anatomical
grafting method, it was found that there was no length after the surgery (Fig. 12.14). It correlates
12 Brachydactyly Types D and E 147

with data reported by other authors and indicates they have shown statistically significant increase
that the metacarpal lengthening cannot exceed in active-movement range for the MCP rays oper-
10 mm in a single-phase process, which is insuf- ated which has resulted from the flexion increase
ficient in case of brachymetacarpia where the (Fig. 12.16). On the contrary, a double decrease
average shortening value varies between 15 mm in the movement range was observed in the group
and 18 mm [3, 4, 14, 17, 26]. of patients after bone grafting both due to
When a long-term treatment outcome was decrease in the active-flexion angle and due to
evaluated for patients with brachymetacarpia extension (Fig. 12.17).
treated by applying the distraction lengthening Hand-grip measurements have also shown a
and single-phase bone-grafting methods, signifi- statistically significant reduction in the number
cant differences between study groups were of patients whose hand-grip force has become
found for most parameters. smaller after the surgery; their percentage has
For instance, although both techniques have decreased from 75% down to 15.8% of the total
improved the hand appearance according to number of patients in the group. In the control
patients’ reports, the complaint analysis has group, 78.9% of patients had a hand grip below
proven that the distraction osteosynthesis tech- the developmental norm for their age after the
nique allowed the surgical treatment to achieve bone-grafting surgery.
better aesthetic, statistically significant results Long-term X-ray studies have found no sec-
(Fig. 12.15). ondary changes in the osteoarticular structure of
When function-related complaints were ana- the hands after distraction lengthening. In the
lyzed, even a bigger difference was found control group, 10% of patients had secondary
between the study groups. When the distraction deformations of the metacarpal lengthened, and
osteosynthesis method was applied during the 40% had a shorter length as compared to the one
surgical treatment, statistically significant on the X-ray films made right after the surgery; it
improvements were observed: a lower occur- means that there are changes in the autogenous
rence rate and intensity of load-induced pain, bone during its rearrangement and that it is hard
longer periods without fatigue or some other spe- to predict the surgical-treatment results when a
cific complaints. On the contrary, when the single-phase bone-grafting method is employed.
single-­
phase bone-grafting method was After surgical treatment of brachydactyly type
employed, patients made more such function-­ D, all patients have reported about improvements
related complaints as smaller hand force and in the appearance of the finger operated and in its
rapid fatigue in the hand operated. In the control nail shape and length (Fig. 12.18). Although nail-­
group, 76.7% patients complained about limited plate deformation was observed in four out of ten
movements in joints operated and, sometimes, in cases upon the distraction-phase completion, it
adjacent rays although no patient had brought has disappeared in three cases within 2 or
such complaints before the treatment. 3 months. In addition, one female patient had a
Objective long-term studies have been con- moderate distal-phalanx angulation.
ducted for patients after distraction lengthening;
148 Z. V. Ivanovich

Fig. 12.15 Brachydac-

tyly type E with a
shortening of the fourth
metacarpal after
treatment: (a) by
distraction lengthening.
The shortening of the
fourth metacarpal is
completely reduced, (b)
by single-phase bone
grafting. The shortening
of the fourth metacarpal
is preserved

b
12 Brachydactyly Types D and E 149

Fig. 12.16 Brachydactyly type E with shortening of the

fourth metacarpal after treatment by distraction lengthen-
ing. Full flexion in MCP

Fig. 12.17 Brachydac-

tyly type E with
shortening of the fourth
metacarpal after
treatment by single-
phase bone grafting. The
limitation of flexion in
the fourth and allied
MCP has been observed
150 Z. V. Ivanovich

a b

Fig. 12.18 Brachydactyly type D: (a) with shortening of the distal phalanxes of the thumb on both hands, (b) after
distraction lengthening of the distal phalanx of the right thumb

12.8 Conclusion 3. Bozan M, Altinel L, Kuru I, et al. Factors that affect

the healing index of metacarpal lengthening: a
­retrospective study. J Orthop Surg. 2006;14(2):167–
In many cases, brachydactyly type E not only 71. [Link]
results in aesthetic-related complaints but also 4. Bulut M, Ucar Y, Azboy I, et al. Lengthening by
interferes with the patients’ hand function and distraction osteogenesis in congenital shorten-
ing of metacarpals. Acta Orthop Traumatol Turc.
quality of life. However, if improper treatment is 2013;47(2):79–85.
administered, then functional disorders result in a 5. Erdem M, Sen C, Eralp L, et al. Lengthening of short
more significant reduction of patient’s qualify of bones by distraction osteogenesis – results and com-
life than before surgical treatment; aesthetic plications. Int Orthop. 2009;33(3):807–13. https://
[Link]/10.1007/s00264-­007-­0491-­x.
problems are not solved completely either. In our 6. Southgate G, Holms W. Metacarpal lengthening. J
group, the distraction-lengthening technique has Hand Surg. 1985;10B:391–2.
clearly shown its benefits for brachymetacarpia 7. Okazaki M, Shiokawa I, Sasaki K et all. Standing nail
treatment and, therefore, it can be recommended deformity of the great toes with multiple brachymeta-
carpia and brachyphalangia of the hand. J Plast Surg
as a method of choice. Hand Surg 2010; 44: 4–5: 260–264. doi:[Link]
Although brachydactyly type D causes neither org/10.3109/02844311003679646.
functional disorders nor complaints, it can affect 8. Mathew PW. A case of hereditary brachydactyly. Br
patients’ quality of life if there are high require- Med J. 1908;2:969.