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Apert syndrome

• Overview
• Symptoms
• Treatment
• Prevention

Alternative Names:

Acrocephalosyndactyly

Symptoms:

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

Signs and tests:

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: 7/1/2007
• Reviewed By: Brian Kirmse, MD, Mount Sinai School of Medicine, Department of HumanGenetics, New York, NY. Review provided by VeriMed Healthcare Network.

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