Apert syndrome is a rare genetic disorder that affects the development of a baby's skull. Children born with this condition have an abnormally shaped head and face, and may also have other birth defects. While there is no cure for Apert syndrome, surgery can help correct some of the problems caused by the disorder.
Apert syndrome is caused by a rare mutation in a single gene that is responsible for guiding the joining of bones during development. In most cases, this mutation appears to be random, occurring in about one in 65,000 babies.
The main signs and symptoms of Apert syndrome result from the abnormal growth of the skull and facial bones, which is caused by the premature fusion of skull bones (craniosynostosis). These symptoms include:
A long head with a high forehead
Wide-set, bulging eyes, often with poorly-closing eyelids
A sunken middle face
Poor intellectual development (in some children)
Obstructive sleep apnea
Repeated ear or sinus infections
Hearing loss
Crowded teeth due to an underdeveloped jaw
Additionally, many children with Apert syndrome have abnormally fused bones in their hands and feet (syndactyly), resulting in webbed or mitten-like appearance. Some may also experience heart, gastrointestinal, or urinary system problems.
Doctors often suspect Apert syndrome or another craniosynostosis syndrome at birth based on the newborn's appearance. Genetic testing can usually confirm the diagnosis or identify another cause of the abnormal skull formation.
Although there is no known cure for Apert syndrome, surgery is the primary treatment to correct the abnormal connections between bones. The surgical process typically involves three steps:
Release of skull bone fusion (craniosynostosis release) between 6 and 8 months of age
Midface advancement between ages 4 and 12 to correct misaligned facial bones
Correction of wide-set eyes (hypertelorism correction)
Other treatments for Apert syndrome may include:
Eyedrops and lubricating eye ointment to prevent eye drying
Continuous positive airway pressure (CPAP) for obstructive sleep apnea
Antibiotics for ear and sinus infections
Surgical tracheostomy for severe obstructive sleep apnea
Surgical placement of ear tubes (myringotomy) for repeated ear infections
Additional surgeries may be beneficial depending on the individual child's pattern of facial bone formation problems.
The prognosis for children with Apert syndrome varies widely, with some being severely affected and others only mildly affected. Early surgery to release the skull bones is crucial for allowing the brain to develop normally. Children raised by their parents in a healthy family environment have a better chance of achieving normal intellectual ability, with about four in 10 reaching a normal IQ.
Life expectancy also varies among children with Apert syndrome. Those who survive past childhood and do not have heart problems likely have a normal or near-normal life expectancy, which is improving due to advances in surgical techniques and follow-up care.
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