胰岛素抵抗综合征伴第五掌骨短小

定义 英文原文（暂无中文）

A rare genetic disease characterized by the association of unilateral or bilateral short fifth metacarpals (defined as a gap of 2 mm or more between the distal end of the fifth metacarpal bone and a tangential line connecting the distal ends of the third and fourth metacarpals), insulin resistance, and spherocytosis. Familial short stature has not been reported as part of the syndrome.

基本事实

遗传方式

常染色体显性

发病年龄

青少年期

患病率

<1 / 1 000 000

临床表型 6

外部标识与链接