Apert Syndrome | Boston Children’s Hospital

We don’t know the exact cause of Apert syndrome, but many experts believe it may be the result of a mutation in a gene called “fibroblast growth factor receptor 2,” or FGFR2. The mutation occurs early in a pregnancy.

Because FGFR2 plays an important role in bone growth, disruption of it may cause certain traits of Apert syndrome, including:

• craniosynostosis : a birth defect in which one or more of the joints between the bones of your baby’s skull close prematurely
• syndactyly : webbed or conjoined fingers

The FGFR2 gene is also involved in similar craniofacial syndromes, including Crouzon syndrome, Pfeiffer syndrome, and Jackson-Weiss.

Apert syndrome can be inherited, or it may occur without a known family history. If one parent has Apert syndrome, there is a 50 percent chance that their child will be born with the disorder.