肩胛脊柱发育不良

定义 英文原文（暂无中文）

A rare genetic skeletal dysplasia characterized by carpal and tarsal synostoses (synostoses between capitate and hamate, and between talus and navicular are always present, other carpal and tarsal bones are sometimes incorporated into the fusion), syndactyly between the first and second fingers, hypodactyly and polydactyly of feet and acral defects that may involve the sternum and the lumbosacral spine (including prominent sternum with variable pectus excavatum and lumbosacral spina bifida occulta). Soft tissue syndactyly, dental hypoplasia/dysplasia, wide alveolar ridge and high and narrow palate have also been reported in some patients.

别名

F综合征

基本事实

遗传方式

常染色体显性

发病年龄

产前、新生儿期

患病率

<1 / 1 000 000

临床表型 12

外部标识与链接