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Jackson–Weiss syndrome : ウィキペディア英語版
Jackson–Weiss syndrome

Jackson–Weiss syndrome (JWS) is a genetic disorder characterized by foot abnormalities and the premature fusion of certain bones of the skull (craniosynostosis), which prevents further growth of the skull and affects the shape of the head and face. It can also sometimes cause intellectual disability and crossed eyes as well.
It was characterized in 1976.
==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.

抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)
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