Also known as: Apert syndrome
What is Apert Syndrome?
Apert syndrome was first described in 1894 by Dr. Wheaton and was further characterized by Dr. Apert in 1906. This condition is also called Acrocephalosyndactyly, which means a domed shape of the head with fusion of the fingers.
The Primary clinical signs of Apert syndrome are:
- Craniosynostosis (premature closuse of the sutures of the skull) causing the head to have a tall, “domed” appearance
- Flat midface
- Wide space eyes
- Cleft palate
- Syndactyly of fingers and toes (fusion of the skin and bones of fingers and toes)
- Other features of Apert syndrome include variable developmental delay, significant acne during the teen years, and brain anomalies.
What causes Apert syndrome?
This condition is caused by a change (“mutation”) in a gene called the Fibroblast Growth Factor Receptor Gene 2 or more simply FGFR2. Each person has two copies of the FGFR2 gene. It only takes a mutation in one member of the FGFR2 gene pair to cause the clinical signs of Apert syndrome. Apert syndrome is inherited in an autosomal dominant pattern of inheritance therefore if a person has Apert syndrome, his/her offspring would have a 50% for also having Apert syndrome.
Most individuals with Apert syndrome are the first cases in the family. This means that the parents of the affected child do not have Apert syndrome. If a child’s parents do not have Apert syndrome, the risk to their other pregnancies is low. However, an increased risk for this condition has been found in pregnancies of older fathers.
What is the prognosis?
With close medical attention, the prognosis for most children with this condition is positive. Multiple surgeries and ongoing therapies are required for these children but most will ultimately have useful function of the hands, attend school, have friends, and most of all enjoy life. With close follow-up by a craniofacial team, these children can grow to healthy and happy adults.