腭裂-身材矮小-椎骨畸形综合征

定义 英文原文（暂无中文）

A rare, genetic, multiple congenital anomalies syndrome characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck , vertebral anomalies and intellectual disability. There have been no further descriptions in the literature since 1993.

别名

Mathieu-De Broca-Bony 综合征

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 11

外部标识与链接