短指A1
基因病名称(英)
Brachydactyly A1
别名(英)
Farabee-type brachydactyly
统计
reviewed:1; annotated:0
交叉引用
112500,C1862151,D059327
描述(英)
A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. Brachydactyly type A1 is characterized by middle phalanges of all the digits rudimentary or fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are short. BDA1 inheritance is autosomal dominant.
描述
一种短指。Brachydactyly 定义了一组遗传性畸形，其特征是由于指骨和/或掌骨的异常发育而导致手指缩短。A1 型短指症的特征是所有指的中间指骨发育不全或与末端指骨融合。拇指和大脚趾的近节指骨很短。BDA1 遗传是常染色体显性遗传。