Apert Syndrome

Apert Syndrome falls into the category of genetic disorders called craniosynostosis and specifically causes craniofacial and limb abnormalities. Apert Syndrome is not a common condition, as it estimatedly affects only 1 in every 160,000-200,000 babies. This form of craniosynostosis is named for the French physician E. Apert, who first distinguished the condition in 1906. In a child without a form of craniosynstosis, the skull is comprised of multiple ‘plates’ that are loosely linked to each other and over time fuse together to produce a normal adult skull. In general, craniosynostosis prompts a premature fusion of the plates of the skull, resulting in limited brain expansion and an elevated pressure in the brain as it grows. Webbed fingers and toes (syndactyly) in Apert Syndrome is one of the distinguishing features with fusion of two or more digits both on the hands and the feet.

What is Apert Syndrome?

Apert Syndrome is a genetic disease in which specific ‘sutures,’ or openings between the skull bones close together too early, most often aesthetically affecting the shape of the skull, midface, feet, and hands. It can be genetically inherited from a parent or, more likely, occur as a new mutation with no family history of the disorder. With Apert Syndrome, the premature merging of the skull bones hinders the skull from expanding normally, causes the midface area to look concave or hollowed in, and the fingers and toes are fused together in differing severities. The mentioned fusion of the fingers and toes (sindactyly), as well as the distinct craniofacial issues described above, are the true distinguishing features that separate Apert Syndrome from other similar conditions.

What Causes Apert Syndrome?

Apert Syndrome can be inherited as an autosomal dominant condition, which means only one parent needs to pass on the mutated gene for a child to be affected. Most often, however, babies are born with Apert Syndrome with no family history of the gene alteration. The reason for this gene mutation is currently not fully understood.

Apert Syndrome and Genetics

On chromosome 10, an alteration of the FGFR2 gene causes Apert Syndrome. This specific gene generates a protein called fibroblast growth factor receptor 2, which provides as a signal for immature fetal cells to mature into bone cells in the womb. The mutation of the gene causes an extended signaling, which in turn stimulates the premature merging of bones in the skull, hands, and feet.

A person with Apert Syndrome has a 50% chance of passing the disease on to the next generation. The mutated gene causing this condition is dominant. This means that an unaffected child who has a parent with Apert Syndrome cannot carry the gene recessively and has 0% chance of passing the disease genetically on to his or her own children.

Also, if parents without Apert Syndrome produce a child with Apert Syndrome, they are no more likely to have another child with Apert than any other non-affected person in the population. Studies have displayed children with Apert Syndrome have been often born to older fathers.

Problems Associated with Apert Syndrome

Other health issues or aesthetic characteristics that may possibly arise as part of or a result of complications related to Apert Syndrome include, but are not limited to:

• Recurrent ear infections
• Hearing loss
• Late closing or large soft spot on baby’s head
• Potential mental delays (differs from person to person)
• Pronounced bulging eyes
• Short in stature
• Severe webbing of hands and feet
• Sleep apnea
• Myriad of heart defects
• Severe acne
• Hydrocephalus
• Dextrorotation
• Polycystic kidneys
• Bicornate uterus
• Tracheoesophageal Fistula

Treatment for Apert Syndrome

Under the best circumstances, treatment for Apert Syndrome begins at birth with correct diagnosis, recognition of the child’s particular needs, and the right facilities to handle the child’s medical needs. A comprehensive care approach is used to care for the child ideally, with a craniofacial anomalies team comprised of specialists such as a craniofacial surgeon, neurosurgeon, ENT, audiologist, speech pathologist, ophthalmologist, orthodontist, oral surgeon, and psychologist. Through an ongoing and collaborative team effort, whatever group of specialists needed and selected to increase the health of the child, will work together to determine the best treatment plan for the child’s deficits.

Treatment for a child with Apert Syndrome typically includes multiple surgeries to rectify abnormal bone growth of the skull, as well as the fusion of the toes and fingers. Other required therapies depend on the child’s particular situation and the severity of the syndrome. Children with Apert Syndrome should ideally receive specialized treatment at a children’s medical center.

If you would like more information about this craniofacial anomaly, please contact the Craniofacial Team of Texas by calling 512-377-1142 or toll free 877-612-7069 to schedule an appointment or complete an online appointment request.