Apert syndrome

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Syndactyly

Acrocephalosyndactyly

• Family history of Apert syndrome
• 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
• Unusual facial appearance resulting from severe under-development of the mid-face
• Prominent or bulging eyes
• Fusion or severe webbing of several adjacent fingers and toes (severe syndactyly), often called "mitten hands"
• Intellectual development may be retarded to varying degrees
• Short stature
• Hearing loss
• Frequent ear infections

A skull x-ray which demonstrates premature closure and a clinical exam can confirm the diagnosis of craniosynostosis (premature fusion of skull sutures). 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 given.

Review Date: 04/20/2005
Reviewed By: Neal Sondheimer, M.D., PhD., Division of Genetics and Metabolism, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network.