Dandy-Walker畸形-轴后性多指综合征

定义 英文原文（暂无中文）

A rare congenital limb malformation characterized by Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation (characterized by posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus) has a variable expression. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals. There have been no further descriptions in the literature since 1999.

别名

DWM伴轴后性多指

基本事实

遗传方式

常染色体隐性

发病年龄

产前、新生儿期

患病率

<1 / 1 000 000

临床表型 2

外部标识与链接