神经发育障碍-颅面畸形-心脏缺损-骨骼异常综合征

定义 英文原文（暂无中文）

A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, hypotonia, craniofacial dysmorphism (such as ridged metopic sutures, long palpebral fissures, broad nasal bridge, hypoplastic alae nasi, low-set, prominent ears, prominent midline tongue groove, and downturned mouth), congenital heart defects, and variable skeletal abnormalities including hip dysplasia, vertebral anomalies, and scoliosis. Additional reported manifestations include high pain tolerance and genitourinary anomalies. Brain imaging may show a thin corpus callosum or white matter abnormalities.

别名

金氏综合征

基本事实

遗传方式

常染色体显性、不适用

发病年龄

产前、婴儿期、新生儿期

患病率

<1 / 1 000 000

临床表型 71

外部标识与链接