Apert syndrome

Definition

Apert syndrome is a genetic disease in which the seams between the skull bones close earlier than normal. This affects the shape of the head and face.

Alternative Names

Causes

Apert syndrome can be passed down through families (inherited). The syndrome is inherited as an autosomal dominant trait, which means that only one parent needs to have the condition for a child to be affected.

Some cases may occur without a known family history.

Apert syndrome is caused by mutations in a gene called fibroblast growth factor receptor 2. This gene defect causes some of the bony sutures of the skull to close too early, a condition called craniosynostosis. Persons with this syndrome have a distinctive looking face, and there may be full-length webbing or fusion between the 2nd, 3rd, and 4th fingers, as well as the toes. As the child grows, the bones in the hands and feet become progressively fused, which reduces flexibility and function.

Several other syndromes have a similar appearance and include craniosynostosis. They include:

• Carpenter syndrome (kleeblattschadel, cloverleaf skull deformity)
• Crouzon disease (craniofacial dysostosis)
• Saethre-Chotzen syndrome
• Pfeiffer syndrome