Jackson-Weiss Syndrome - Presentation

Presentation

Many of the characteristic facial features of Jackson-Weiss syndrome result from the premature fusion of the skull bones and foot bones. The head is unable to grow normally, which can lead to a misshapen skull, widely spaced eyes, and a bulging forehead. Foot abnormalities are the most consistent characteristic, as not all individuals with Jackson-Weiss syndrome have abnormal skull or facial features. The big toes are enlarged and bend away from the other toes. Hand abnormalities are rare. People with Jackson–Weiss syndrome usually have normal intelligence and a normal life span.

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