手足指(趾)蹼畸形

定义 英文原文（暂无中文）

Symbrachydactyly of hands and feet is a rare, non-syndromic limb reduction defect disorder characterized by unilateral or bilateral brachydactyly, cutaneous syndactyly and global hypoplasia of the hand and/or foot, with underlying muscles, tendons, ligaments and bones being affected but without other associated limb anomalies. Patients typically present short, stiff, webbed or missing fingers and/or toes which are often replaced with small stumps (nubbins) with residual nails.

别名

De Smet-Fabry-Fryns 综合征

基本事实

发病年龄

产前、新生儿期

患病率

<1 / 1 000 000

临床表型 8

外部标识与链接