Apert syndrome
Alternate Names : Acrocephalosyndactyly
Symptoms & Signs
- 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
Diagnosis & 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.
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