皮肤软骨角膜营养不良

定义 英文原文（暂无中文）

Dermochondrocorneal dystrophy is characterised by osteochondrodystrophy of the hands and feet, corneal dystrophy and the presence of skin nodules clustered around the metacarpophalangeal and interphalangeal joints, around the nose and ears and on the posterior surface of the elbow. Gingival lesions may also be present. It has been described in less than 20 patients. Transmission is autosomal recessive.

别名

François综合征

基本事实

遗传方式

常染色体隐性

发病年龄

儿童期

患病率

<1 / 1 000 000

临床表型 7

外部标识与链接