少毛症-智力障碍Lopes型

定义 英文原文（暂无中文）

A rare ectodermal dysplasia syndrome characterized by hypotrichosis of scalp and eyebrows, finger syndactyly, intellectual disability and early eruption of teeth. Facial dysmorphism (i.e. round face with prominent forehead, cheeks and ears, and upward-slanting palpebral fissures), hypoplasia of median and distal phalanges, and kyphosis are additionally observed features. There have been no further descriptions in the literature since 1996.

别名

Lopes-Marques de Faria综合征

基本事实

遗传方式

常染色体隐性

发病年龄

儿童期、婴儿期

患病率

<1 / 1 000 000

临床表型 4

外部标识与链接