先天性畸形-身材矮小-耳聋-性发育障碍综合征

定义 英文原文（暂无中文）

A rare multiple congenital anomalies syndrome characterized by craniofacial dysmorphism (including microcephaly, facial asymmetry, arched eyebrows, hypertelorism, ptosis, broad and flat nasal bridge, small nose, inverted nostrils, cleft palate, microtia, micrognathia, and short neck), deafness, male pseudohermaphroditism and severe intellectual disability. Additional clinical features include intrauterine growth restriction, feeding difficulty, growth failure, pulmonary hypertension, patent ductus arteriosus, hypotonia, brisk tendon reflexes, repeated respiratory infections and persistent hypoxemia. There have been no further descriptions in the literature since 1986.

别名

Ieshima-Koeda-Inagaki综合征

基本事实

遗传方式

常染色体隐性

发病年龄

婴儿期、新生儿期

患病率

<1 / 1 000 000

临床表型 30

外部标识与链接