桡尺骨融合-小头畸形-脊柱侧凸综合征

定义 英文原文（暂无中文）

A rare syndrome with synostosis and limb malformations, characterized by radioulnar synostosis, short stature, microcephaly, scoliosis and intellectual disability. Majority of the patients also have clinodactyly (and sometimes brachymesophalangy) of the fifth fingers, syndactyly and brachydactyly of fingers. Joint laxity of the fingers and knees can also be present. Additional clinical features may include global developmental/psychomotor delay (notably speech delay), attention deficit, hyperactivity and variable dysmorphic features (including hypotelorism, prominent eyes and nose and dysmorphic ears).

别名

Giuffré-Tsukahara综合征

基本事实

遗传方式

未知

发病年龄

产前、新生儿期

患病率

<1 / 1 000 000

临床表型 19

外部标识与链接