短指A2
基因病名称(英)
Brachydactyly A2
别名(英)
Brachymesophalangy II,Mohr-Wriedt type brachydactyly
别名
Brachymesophalangy II,Mohr-Wriedt 型短指
统计
reviewed:3; annotated:0
交叉引用
112600,C1832702,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. In brachydactyly type A2 shortening of the middle phalanges is confined to the index finger and the second toe, all other digits being more or less normal. Because of a rhomboid or triangular shape of the affected middle phalanx, the end of the second finger usually deviates radially.
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。在 A2 型短指中,中指骨的缩短仅限于食指和第二个脚趾,所有其他手指或多或少都正常。由于受累的中指骨呈菱形或三角形,第二指的末端通常呈放射状偏离。