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Pallister–Hall syndrome
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Pallister–Hall syndrome : ウィキペディア英語版
Pallister–Hall syndrome

Pallister–Hall syndrome is a disorder that affects the development of many parts of the body.
It is named for Judith Hall and Philip Pallister.
==Presentation==
Most people with this condition have extra fingers and/or toes (polydactyly), and the skin between some fingers or toes may be fused (cutaneous syndactyly). An abnormal growth in the brain called a hypothalamic hamartoma is characteristic of this disorder. In many cases, these growths do not cause any medical problems; however, some hypothalamic hamartomas lead to seizures or hormone abnormalities that can be life-threatening in infancy. Other features of Pallister–Hall syndrome include a malformation of the airway called a bifid epiglottis, laryngeal cleft, an obstruction of the anal opening (imperforate anus), and kidney abnormalities. Although the signs and symptoms of this disorder vary from mild to severe, only a small percentage of affected people have serious complications.

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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