智力低下-身材矮小-眶距过宽综合征

定义 英文原文（暂无中文）

Intellectual disability-short stature-hypertelorism syndrome is a rare genetic syndromic intellectual disability characterized by short stature, mild to moderate intellectual disability, craniofacial dysmorphism (prominent broad 'square' forehead, hypertelorism, depressed nasal bridge, broad nasal tip and anteverted nares) and early hypotonia, typically present until infancy. There have been no further descriptions in the literature since 1991.

别名

Stoll-Géraudel-Chauvin综合征

基本事实

发病年龄

儿童期

患病率

<1 / 1 000 000

临床表型 9

外部标识与链接