大头畸形-身材矮小-截瘫综合征

定义 英文原文（暂无中文）

A rare, syndromic intellectual disability characterized by macrocephaly, short stature, intellectual disability, variable degree of spastic paraplegia, central nervous system malformations (hydrocephalus, Dandy-Walker malformation), and dysmorphic features, such as high and broad forehead, midface hypoplasia, and small and broad hands and feet. There have been no further descriptions in the literature since 1993.

别名

Volcke-Soekarman 综合征

基本事实

遗传方式

未知

发病年龄

成年期

患病率

<1 / 1 000 000

外部标识与链接