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Myhre syndrome
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Myhre syndrome : ウィキペディア英語版
Myhre syndrome

Myhre syndrome is a rare genetic disorder.
==Signs and symptoms==

The clinical presentation is variable but includes
*developmental and growth delay
*athletic muscular built
*skeletal anomalies
*joint stiffness
*characteristic facial appearance
*deafness
*variable cognitive deficits
The facial abnormalities include:
*blepharophimosis (an abnormally narrow gap between the upper and lower eyelids)
*maxillary hypoplasia (underdevelopment of the upper jaw)
*prognathism (prominent lower jaw)
The skeletal abnormalities include:
*short stature
*square body shape
*broad ribs
*iliac hypoplasia
*brachydactyly
*flattened vertebrae
*thickened calvaria
Congenital heart disease and undescended testes have also been reported in association with this syndrome.

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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