内眦距离过宽-器官间距过远-斜视-高弓足综合征

定义 英文原文（暂无中文）

A rare multiple congenital anomalies/dysmorphic syndrome characterized by telecanthus, hypertelorism, strabismus, and pes cavus. Facial dysmorphism may also include prominent forehead, epicanthal folds, a mobile soft tissue mass on tip of the nose, hypoplastic philtrum and vermillion border of the thin upper lip. Additional clinical features may include clinodactyly, camptodactyly, bilateral dorsiflexed toes, metatarsus adductus and hallux varus, bilateral posterior dislocation of the radial head, flared metaphyses of the long bones and osteopenia of tubular bones. Bilateral inguinal hernias and penile hypospadias without chordee may also be present. No neurologic signs or motor impairment have been reported. There have been no further descriptions in the literature since 1985.

基本事实

遗传方式

未知

发病年龄

新生儿期

患病率

<1 / 1 000 000

外部标识与链接