Apert Syndrome
What is Apert Syndrome?
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Apert syndrome is a genetic disorder in which the
fingers, face, toes, or feet are mutated. Apert
syndrome can be inherited from a parent who has it
or through a genetic mutation.
A child with Apert syndrome usually has brain plates
that have fused together and cause pressure in the
head and also physical deformation of the head.
Apert syndrome also shows in the fingers and toes.
How was Apert Syndrome discovered?
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Apert syndrome was first described
in 1906 by a French physician named
Eugene Apert.
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He found nine different people who
all had a disease called
acrocephalosyndactyly.
Acrocephalosyndactyly is a condition
when the bone or skin between the
toes and fingers seam together.
Who does Apert Syndrome affect?
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1 in 65,000 to 88,000 newborns have Apert
syndrome.
Apert syndrome is usually found in Asians at 22.3
cases per million births whereas Hispanics have the
lowest percent of infected at 7.6 cases per million
births.
Apert syndrome affects males and females equally.
It is seen a lot in children with elder fathers.
Symptoms
Common Apert syndrome complications:
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Abnormally shaped head and face
Malformations of the brain
Increased brain pressure
Cleft palate
Abnormalities of the eyes, including
down-slanting palpebral fissures,
hypertelorism (wide spacing),
exophthalmos (protrusion)
Low-set ears, recurrent ear
infections and hearing loss
Obstruction of the airways
Sleep apnoea
Learning disability
Excessive sweating
Severe acne
Abnormalities of the heart and blood
vessels, gastrointestinal tract,
kidneys and genito-urinary organs
Causes of Apert Syndrome
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Apert syndrome is caused by the mutation of
chromosome 10, which controls the production of a
protein called fibroblast growth factor receptor 2
(FGFR2). The FGFR2 protein controls bone and
skin formations.
This syndrome is usually found in children of elderly
fathers around the age of 50 when it is not inherited.
The mutation happens in the sperm.
Inheritance
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Apert syndrome is inherited
in an autosomol dominant
pattern. This type of
inheritance is shown to the
right. It means that if one
parent has Apert syndrome,
and the other is normal, then
their children will each have
a 50% chance of being
infected.
Treatment
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The only treatment of Apert syndrome is surgery.
“Cranial reformation” is the procedure of separating
plates in a child’s skull which have prematurely
fused and cause increased pressure in the brain as it
tries to grow.
Surgery can also be done on fingers and toes. When
the fingers and toes are morphed together, the
condition is called syndactyly. It is the most common
symptom of Apert syndrome.
Prevention
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Apert Syndrome cannot be cured.
However, there are many preventions and
treatments to developing complications and to
help the child diagnosed to grow normally.
This might include seeing various specialists
and, or, surgery.