短指畸形-智力低下-心脏缺陷综合征

定义 英文原文（暂无中文）

Brachydactyly-mesomelia-intellectual disability-heart defects syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, thin habitus with narrow shoulders, mesomelic shortness of the arms, craniofacial dysmorphism (e.g. long lower face, maxillary hypoplasia, beak nose, short columella, prognathia, high arched palate, obtuse mandibular angle), brachydactyly (mostly involving middle phalanges) and cardiovascular anomalies (i.e. aortic root dilatation, mitral valve prolapse).

别名

Stratton-Garcia-Young综合征

基本事实

发病年龄

新生儿期

患病率

<1 / 1 000 000

临床表型 11

外部标识与链接