股骨腓骨尺骨复合体

定义 英文原文（暂无中文）

A rare congenital limb malformation syndrome characterized by a highly variable combination of congenital anomalies of the femur, fibula, and/or ulna, which can appear along with finger/toe anomalies at the ulnar/fibular side. Limb defects are asymmetrical, with upper limbs more often affected than lower limbs, and the right side of the body more often affected than the left. Abnormalities of the upper limb include amelia, hypoplasia of the humerus, humero-radial synostosis, and malformation of the ulna and ulnar rays. Abnormalities of the lower limb include absence of the proximal part of the femur and absence of the fibula. Axial skeleton, internal organs and intellectual function are usually normal.

别名

股骨腓骨尺骨发育障碍

基本事实

遗传方式

不适用

发病年龄

产前、新生儿期

患病率

1-9 / 100 000（Europe）

临床表型 14

外部标识与链接