先天性巨结肠-指甲发育不全-畸形综合征

定义 英文原文（暂无中文）

Hirschsprung disease-nail hypoplasia-dysmorphism syndrome is a fatal malformative disorder that is characterized by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions in the literature since 1988.

别名

Al Gazali-Donnai-Muller综合征

基本事实

遗传方式

常染色体隐性

发病年龄

新生儿期

患病率

<1 / 1 000 000

外部标识与链接