Also known as: Acrocephalosyndactyly.
What is Apert Syndrome?
Apert syndrome was first described in 1894 by Dr. Wheaton and was further characterized by Dr. Eugène Charles Apert in 1906. This condition is also called Acrocephalosyndactyly, which means a dome- shaped head with fusion of the fingers.
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 copy 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% risk of also having Apert syndrome.
What causes Apert syndrome?
Most children born with Apert syndrome are the first cases in their family. Their parents do not have the syndrome. This occurs because of a spontaneous mutation of the FGFR2 gene in the child. In such cases, the risk of having another child with Apert syndrome is very low. However, an increased risk for this condition has been found in pregnancies of older fathers.
What are the symptoms of Apert Syndrome?
- Craniosynostosis (premature closure of the sutures of the skull) causing the head to have a tall, “domed” appearance (also known as turribrachycephaly)
- Flat midface
- Wide set and bulging eyes
- Beaked nose
- Syndactyly of fingers and toes (fusion of the skin and bones of fingers and toes)
- Apert syndrome can also include various degrees of developmental delay, significant acne during the teen years, cleft palate, and brain anomalies
What are Apert Syndrome care options?
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.
This page was last updated on: 9/12/2019 3:16:20 PM