Moebius syndrome

Journal of Advanced Clinical and Research Insights

Moebius syndrome is a congenital neurological disorder, which frequently shows facial diplegia with bilateral lateral rectus palsy, but there are variations. The definition and diagnostic criteria for Moebius syndrome vary among authors, it is defined as congenital facial weakness with abnormal ocular abduction. Deformities such as muscular dystrophies and mental retardation have also been associated with this syndrome. The list of signs and symptoms mentioned in various sources for Moebius syndrome includes more than 20 peculiar features. This review of literature includes classification and grading system of Moebius syndrome, their features, etiology, and management.

Cureus, 2018

Moebius syndrome is a rare cause of congenital facial and abducens palsy.It is sometimes associated with musculoskeletal abnormalities and other cranial nerve palsies. Genetics and ischemic insults to the fetus are considered to be the cause of this syndrome. We report here a 12-year-old female patient who was presented to us with poor cosmesis of her face, with associated decreased vision and lagophthalmos in her left eye. She didn't have any signs of exposure keratopathy in the affected eye. Her best-corrected vision was 20/20 and 20/60 in right and left eyes respectively. The cause of decreased vision in her left eye was found to be anisometropic amblyopia, due to asymmetric hyperopic astigmatism in her eyes. She did not report diplopia in any gaze position. Examination of her cranial nerve revealed left facial, abducens, and hypoglossal nerve palsy, leading us to the diagnosis of Moebius syndrome. Apart from that, she had syndactyly in one of her hands, and brachydactyly in ...

British Journal of Oral Surgery, 1973

Pediatric dentistry

Moebius syndrome is a congenital, nonprogressive disorder clinically characterized by loss of facial expression, impaired stomatognothic system functions, incapacity to dose the eyelids, and several oral impairments. The purpose of this paper was to present the clinical manifestations and the dental treatment in a 5-year, Z-month-old male Moebius syndrome patient. The child presented with facial asymmetry, difficulty performing facial mimic movements and pronouncing some letters, and compromised suction, mastication, breathing, and deglutition. An intraoral examination revealed hypofunction of the periorai muscles, cheeks and tongue, ankyloglossia. anterior open bite, and absence of carious lesions and dental anomalies. The dental treatment consisted of frenectomy and further placement of a removable orthodontic appliance with a palatal crib for correction of the anterior open bite. After 12 months of foltow-up, anterior open bite decreased and speech, deglutition, and mastication improved. (Pediatr Dent 2009:31289-93)

European Journal of Oral Sciences, 2009

Italian Journal of Pediatrics, 2016

Background: Moebius syndrome (MBS) is rare disease characterized by nonprogressive congenital uni-or bilateral facial (i. e. VII cranial nerve) and abducens (i. e. VI cranial nerve) palsy. Although the neurological and ophthalmological findings are quite well-known, data concerning the attendant functional difficulties and their changes over time are seldom addressed. In this study we attempt to estimate the prevalence of clinical and functional data in an Italian cohort affected by MBS. Methods: The study included 50 children, 21 males and 29 females, aged 1 month to 14 years. The patients entered into a multidisciplinary diagnostic and follow-up protocol that had the specific purpose of detecting clinical and developmental deficits related to MBS. Results: Involvement of the VII cranial nerve (total/partial, bilateral or unilateral) was present in 96 % of patients, and of the VI nerve in 85 %. Two patients were without impairment of the VII nerve and seven patients had no involvement of the VI nerve and were thus classified as Moebius-like because of the involvement of other CNs. Additional affected CNs were numbers III-IV in 16 %, V in 11 %, VIII and X each in 8 %, the XI in 6 %, the IX, most often partially, in 22 %, and the XII in 48 % of cases. Their development was characterized by global delay at one year of age, motor, emotional and speech difficulties at two years of age, a trend toward normalization at three years of age but with weakness in hand-eye coordination, and achieving average results at five years of age. Overall 90 % of children had a normal developmental quotient whereas only 10 % manifested cognitive deficits. Conclusion: Early rehabilitation may enhance the recovery of normal function, particularly in vulnerable areas of development. It is possible that early intervention that integrates sensory and visual information with emotional difficulties can improve the prognosis of the child with MBS.

Iatreia, 2010

Oral Maxillofac Surg, 2014

Objectives The molecular underpinnings of Moebius syndrome (MBS) are diverse. This article provides a comprehensive summation of the genetic and etiologic literature underlying this disorder. Elucidating the genetic causes of the disorder can aid in earlier detection and treatment planning. Design Articles from 1880–2013 were selected and reviewed by six researchers to understand all of the molecular theories and chronicity of advancements in the literature. Results Mutations in the MBS1, MBS2, and MBS3 gene loci all have contributed to the development of MBS through various pathways. HOX family genes coding for homeobox domains, also, have been implicated in the abnormal development of the human brain. These are among the numerous genes that have been linked to the development of MBS. Conclusion Our study codified nascent findings of the molecular determinants of MBS. These findings add to a growing database of MBS-associated mutations and can be used to diagnose MBS and clarify pathogenesis.

American Journal of Medical Genetics Part A, 2010

Moebius syndrome (OMIM 157900) is a rare congenital condition clinically characterized by congenital facial diplegia and sixth cranial nerve palsy. Dysfunction of other cranial nerves, malformations of orofacial structures, and limb anomalies may also be present. The etiology is not well defined and is heterogeneous . Causes include chromosomal abnormalities , and exposure to teratogens and vascular events during gestation . Most cases are sporadic; however, familial descriptions have been rarely reported . Herein, we describe a familial case of Moebius syndrome suggestive of an autosomal dominant inheritance and presenting with skeletal anomalies.

Egyptian Journal of Medical Human Genetics, 2014

We report a 4 month old female infant, 3rd in order of birth of the first cousin consanguineous parents. The patient has congenital right facial nerve palsy, with asymmetry of facial expression during crying and difficulty in swallowing. Associated anomalies include abnormal facial features, bilateral finger anomalies, bilateral talipes equinovarus, kyphoscoliosis, hypotonia, high frequency hearing loss. Bilateral macular hyperpigmentation was detected in our patient on fundus examination which was not reported previously in Moebius syndrome cases. In addition there is hypoplasia of the right pectoralis major muscle. Production and hosting by Elsevier B.V. on behalf of Ain Shams University.