短指(趾)畸形-长拇指综合征

定义 英文原文（暂无中文）

A rare heart-hand syndrome characterized by bisymmetric brachydactyly accompanied by long thumbs and cardiomegaly. Cardiac conduction defects may also be present. Additional clinical features include limited internal and external rotation of the shoulders (that are usually narrow with short clavicles) and limited flexion of the metacarpophalangeal joints. Mild shortness of the limbs, small hands and feet, clinodactyly, pectus excavatum and murmur of pulmonic stenosis have also been reported. There have been no further descriptions in the literature since 1981.

别名

短指（趾）畸形，长拇指型

基本事实

遗传方式

常染色体显性

发病年龄

婴儿期、新生儿期

患病率

<1 / 1 000 000

外部标识与链接