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Apert syndrome - Symptom

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.

Syndactyly

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

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