Apert syndrome

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Syndactyly

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.

Acrocephalosyndactyly

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 pass on the faulty gene for a child to have the condition.

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.

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People with Apert 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 that include craniosynostosis can lead to a similar appearance of the face and head, but do not include the severe hand and foot problems of Apert syndrome. These similar syndromes include:

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

Review Date: 08/26/2009
Reviewed By: Chad Haldeman-Englert, MD, Wake Forest University School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org).