骨硬化-鱼鳞癣-卵巢早衰综合征

定义 英文原文（暂无中文）

A rare genetic disease characterized by sclerosing dysplasia affecting the diaphyseal and metaphyseal regions of the long bones, as well as the skull and metacarpals, in association with skin changes like those seen in ichthyosis vulgaris and premature ovarian failure with bilateral hypoplasia of the ovaries. Patients present in adulthood, primarily with swelling of the extremities and occasional mild pain in the legs.

别名

骨硬化性发育不良-鱼鳞癣-卵巢早衰综合征

基本事实

遗传方式

未知

发病年龄

青少年期、成年期

患病率

<1 / 1 000 000

临床表型 4

外部标识与链接