皮质盲-智力障碍-多指（趾）综合征

定义 英文原文（暂无中文）

A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital, total, cortical blindness, intellectual disability, postaxial polydactyly of the hands and feet, pre- and postnatal growth delay, psychomotor developmental retardation, and mild facial dysmorphism (incl. prominent forehead, short nose, long philtrum, high-arched palate, and microretrognathia). Recurrent respiratory and intestinal infections, as well as moderate hypertonia and hyperreflexia, are also associated. There have been no further descriptions in the literature since 1985.

基本事实

遗传方式

常染色体隐性

发病年龄

产前、新生儿期

患病率

<1 / 1 000 000

临床表型 14

外部标识与链接