Apert syndrome

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Syndactyly

Acrocephalosyndactyly

• Early closure of sutures between bones of the skull, noted by ridging along sutures
• Frequent ear infections
• Fusion or severe webbing of the 2nd, 3rd, and 4th fingers, often called "mitten hands"
• Hearing loss
• Large or late-closing soft spot on a baby's skull
• Possible, slow intellectual development (varies from person to person)
• Prominent or bulging eyes
• Severe under-development of the mid-face
• Skeletal (limb) abnormalities
• Short height
• Webbing or fusion of the toes

A skull x-ray and physical exam can confirm the diagnosis of craniosynostosis.

Hand or foot x-rays are also very important to determine the extent of bone problems.

A genetic test for mutations in the fibroblast growth factor receptor 2 gene can confirm the diagnosis of Apert syndrome. Hearing tests should also always be performed.

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).

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