Mononen-Karnes-Senac综合征

定义 英文原文（暂无中文）

A rare dysostosis with brachydactyly without extraskeletal manifestations characterized by skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature, and mild bowleg with fibular overgrowth. Females were reported to exhibit phenotypic variation and be less severely affected than males who were similarly affected. There have been no further descriptions in the literature since 1992.

别名

Mononen-Karnes-Senac综合征

基本事实

遗传方式

X 连锁显性

发病年龄

婴儿期、新生儿期

患病率

<1 / 1 000 000

外部标识与链接