身材矮小症-心脏瓣膜病-特征性面容综合征

定义 英文原文（暂无中文）

Short stature-valvular heart disease-characteristic facies syndrome is characterised by severe short stature with disproportionately short legs, small hands, clinodactyly, valvular heart disease and dysmorphism (ptosis, high-arched palate, abnormal dentition). It has been described in a mother and two daughters. This syndrome is probably transmitted as an autosomal dominant trait.

基本事实

遗传方式

常染色体显性

发病年龄

婴儿期、新生儿期

患病率

<1 / 1 000 000

临床表型 14

外部标识与链接