Apert syndrome
Apert syndrome is a
genetic disorder that causes abnormal development of the skull. Babies with
Apert syndrome are born with a deformed head and face. Many children with Apert
syndrome also have other birth defects. There is no cure for Apert syndrome,
but surgery can help correct some of the problems that occur.
Causes of Apert syndrome
Apert syndrome is
caused by a rare mutation in one gene. This mutated gene is usually responsible
for connecting bones at the right time during development. In almost all cases,
the mutation in the Apert syndrome gene is random. Only one in 65,000 babies is
born with Apert syndrome.
Apert syndrome symptoms
A faulty gene in
infants with Apert syndrome allows the bones of the skull to fuse together
prematurely, a process called craniosynostosis. The brain continues to grow
inside the abnormal skull, putting pressure on the skull and facial bones.
Abnormal growth of
the skull and face in Apert syndrome gives its main signs and symptoms:
- Long head with high forehead.
- Wide-set and bulging eyes, often with poorly closed eyelids
- Sunken middle part of the face
Other symptoms of
Apert syndrome are also the result of abnormal growth of the skull:
- Poor intellectual development (in some children with Apert syndrome)
- Obstructive sleep apnea
- Repeated ear or sinus infections
- Hearing loss
- Crowding of teeth due to underdevelopment of the jaw
Abnormal fusion of
the bones of the arms and legs (syndactyly)—with webbed or mitten-like hands or
feet—is also a common symptom of Apert syndrome. Some children with Apert
syndrome also have heart, gastrointestinal, or urinary problems.
Apert syndrome diagnosis
Doctors often suspect
Apert syndrome or another craniosynostosis syndrome at birth based on the
appearance of the newborn. Genetic testing can usually reveal Apert's syndrome
or another cause of abnormal skull formation.
Apert syndrome treatment
Apert syndrome is
incurable. Surgery to correct abnormal connections between bones is the primary
treatment for Apert syndrome.
As a rule, the
operation for Apert syndrome takes place in three stages:
- Release of skull bone fusion (craniosynostosis release). The surgeon separates the abnormally fused bones of the skull and partially rearranges some of them. This surgery is usually done when the baby is 6 to 8 months old.
- Midface advancement. As a child with Apert syndrome grows older, the bones of the face shift again. The surgeon cuts the jaw and cheekbones and moves them to a more normal position. This operation can be done at any time between the ages of 4 and 12. Additional corrective surgery may be required, especially when midface enhancement is performed at a young age.
- Correction of wide-set eyes (hypertelorism correction). The surgeon removes a wedge of bone in the skull between the eyes. The surgeon brings the eye sockets closer together and may also correct the jawbone.
Other treatments for
Apert syndrome include:
- Eye drops during the day, lubricating eye ointment at night; these drops can prevent the dangerous dry eyes that can occur with Apert's syndrome.
- Continuous positive airway pressure (CPAP); a child with Apert syndrome and obstructive sleep apnea may wear a mask attached to a small machine at night. The device creates pressure that keeps the child's airways open during sleep.
- Antibiotics. Children with Apert syndrome are prone to ear and sinus infections caused by bacteria that require antibiotic therapy.
- Surgical tracheostomy or placement of a breathing tube on the neck; this surgery may be performed in children with severe obstructive sleep apnea due to Apert's syndrome.
- Surgical positioning of the ear tubes (myringotomy) in children with recurrent ear infections due to Apert's syndrome
Other surgeries may
be beneficial for some children with Apert syndrome, depending on their
individual profile of facial bone problems.
Apert syndrome prognosis
Children with Apert
syndrome usually require surgery to free the bones of the skull so that the
brain can develop normally. The older the child before this operation, the less
likely he is to achieve normal intellectual abilities. However, even with early
surgical intervention, some brain structures may remain underdeveloped.
In general, children
raised by parents are more likely to achieve normal intellectual abilities.
About four out of ten children with Apert syndrome who grow up in a healthy
home environment achieve a normal intelligence quotient (IQ). Among institutionalized
children with Apert syndrome, only one in 18 reaches a normal IQ. In one study,
three of 136 children with Apert syndrome ended up going to college.
Children with Apert
syndrome and other similar conditions who have a normal IQ do not appear to be
at increased risk for behavioral or emotional problems. However, they may need
additional social and emotional support to cope with their condition. Children
with Apert syndrome with lower IQs often have behavioral and emotional
problems.
Children with Apert
syndrome can vary greatly, with some having a severe course of the disease and
others having a mild one. Experts don't know why the same genetic mutation can
cause such differences in the prognosis of Apert syndrome in children.
Life expectancy also varies among children with Apert syndrome. People with Apert syndrome who have survived past childhood and have no heart problems likely have a normal or near-normal life expectancy. Life expectancy is likely to improve with advances in surgical techniques and aftercare.