毛囊角化病-侏儒症-脑萎缩综合征

定义 英文原文（暂无中文）

A rare, genetic, developmental defect during embryogenesis syndrome characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. Alopecia (of scalp, eyebrows and eyelashes) and microcephaly are additionally observed features. Intellectual disability, inguinal hernia and epilepsy may also be associated. There have been no further descriptions in the literature since 1974.

基本事实

遗传方式

X 连锁隐性

发病年龄

婴儿期、新生儿期

患病率

<1 / 1 000 000

临床表型 6

外部标识与链接