骨发育不良伴短指畸形

定义 英文原文（暂无中文）

A group of rare disorders characterized by brachydactyly due to abnormal development of the phalanges and/or metacarpals. Brachydactyly is part of a group of limb malformations characterized by dysostosis, involving abnormal development of individual bones, either in isolation or in combination with other skeletal abnormalities. These disorders primarily affect the skeleton, although extraskeletal manifestations may also occur.

基本事实

遗传方式

常染色体显性、常染色体隐性、X 连锁隐性

发病年龄

婴儿期、新生儿期

外部标识与链接