Genetic disorders and hereditary diseases
• Four of the main types are:
• Single-gene inheritance diseases.
• Multifactorial genetic inheritance disorders.
• Chromosome abnormalities.
• Mitochondrial genetic inheritance disorders.
• What are common genetic disorders?
• Down syndrome (Trisomy 21).
• FragileX syndrome.
• Klinefelter syndrome.
• Triple-X syndrome.
• Turner syndrome.
• Trisomy 18.
• Trisomy 13.
Down syndrome (Trisomy 21).
• Key points
• Down syndrome is a genetic
condition present at birth, and is due
to the presence of extra genetic
material from chromosome 21.
• Down syndrome is a complex
condition that affects the child’s
health and development.
• Children with Down syndrome can
experience varying degrees of
medical and developmental
problems.
• Individuals with Down syndrome
benefit from loving homes, early
intervention, inclusive and
accommodating education and being
connected to appropriate community
resources throughout their lives.
• Fragile X syndrome (FXS) is
a genetic disorder. FXS is
caused by changes in a gene
called Fragile X Messenger
Ribonucleoprotein 1
(FMR1). FMR1 usually
makes a protein called
FMRP that is needed for
brain development. People
who have FXS do not make
this protein.
• Klinefelter syndrome
(sometimes called
Klinefelter's, KS or XXY) is
where boys and men are
born with an extra X
chromosome. Chromosomes
are packages of genes found
in every cell in the body.
There are 2 types of
chromosome, called the sex
chromosomes, that
determine the genetic sex of
a baby.
• Boys and teenagers
• Taller than average stature.
• Longer legs, shorter torso and broader hips compared with
other boys.
• Absent, delayed or incomplete puberty.
• After puberty, less muscle and less facial and body hair
compared with other teens.
• Small, firm testicles.
• Small penis.
• Enlarged breast tissue (gynecomastia)
• Weak bones.
• Sometimes females with triple X syndrome have these signs
and symptoms:
• Vertical folds of skin that cover the inner corners of the eyes
(epicanthal folds)
• Widely spaced eyes.
• Curved pinky fingers.
• Flat feet.
• Breastbone with an inward bowed shape.
• Weak muscle tone (hypotonia)
• Seizures.
• Problems with the kidneys.
• Turner syndrome is a female-only genetic
disorder that affects about 1 in every 2,000
baby girls. A girl with Turner syndrome only
has 1 normal X sex chromosome, rather than
the usual 2. This chromosome variation
happens randomly when the baby is
conceived in the womb. It is not linked to the
mother's age.
• Cystic fibrosis
• Cystic fibrosis is a rare genetic disorder that affects
mostly the lungs, but also the pancreas, liver, kidneys,
and intestine. Long-term issues include difficulty
breathing and coughing up mucus as a result of frequent
lung infections.
• Cystic fibrosis is inherited in an autosomal recessive
manner.[1] It is caused by the presence of mutations in
both copies (alleles) of the gene encoding the
cystic fibrosis transmembrane conductance regulator
(CFTR) protein.
Sickle cell anemia
• In sickle cell anemia, some red blood cells are
shaped like sickles or crescent moons. These
sickle cells also become rigid and sticky, which
can slow or block blood flow. There's no cure
for most people with sickle cell anemia.
Treatments can relieve pain and help prevent
complications associated with the disease.
• Sickle cell disease is a
genetic disorder caused by
mutations in the beta
globin genes that leads to
faulty hemoglobin protein,
called hemoglobin S.
Hemoglobin S changes
flexible red blood cells into
rigid, sickle-shaped cells.
Haemophilia
• Haemophilia is a rare condition that affects
the blood's ability to clot. It's usually
inherited. Most people who have it are male.
Normally, when you cut yourself, substances in
your blood known as clotting factors mix with
blood cells called platelets to make your blood
sticky and form a clot.
• Hemophilia is caused by a mutation or change, in one of
the genes, that provides instructions for making the
clotting factor proteins needed to form a blood clot. This
change or mutation can prevent the clotting protein from
working properly or to be missing altogether.
• Hemophilia A and B are rare X-linked bleeding disorders
caused by mutations in the genes encoding coagulation
factor VIII (FVIII) and factor IX (FIX). Hemophilia A (HA) is
more common than hemophilia B (HB), with a prevalence
of one in 5,000 male live births compared to one in
30,000, respectively.
