先天性除拇指外单侧手指缺如/发育不全

定义 英文原文（暂无中文）

Congenital absence/hypoplasia of fingers excluding thumb, unilateral is a rare, non-syndromic, terminal transverse limb reduction defect characterized by unilateral absence of the terminal portions of digits 2 to 5, with a mildly hypoplastic thumb and small nail remnants on the digital stumps. Metacarpal bones may be variably reduced.

别名

第2-5指少指畸形，单侧

基本事实

遗传方式

常染色体显性、不适用

发病年龄

产前、新生儿期

患病率

<1 / 1 000 000

临床表型 5

外部标识与链接