早搏-身材矮小-色素沉着-小头畸形综合征

定义 英文原文（暂无中文）

Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome is a rare, genetic, malformation syndrome with short stature characterized by microcephaly, borderline intellectual disability, hyperpigmentation of the skin, short stature, and ventricular extrasystoles. Cardiac syncope may also be associated. There have been no further descriptions in the literature since 1975.

别名

Char-Douglas-Dungan综合征

基本事实

遗传方式

常染色体显性

发病年龄

新生儿期

患病率

<1 / 1 000 000

临床表型 13

外部标识与链接