脑眼鼻综合征

定义 英文原文（暂无中文）

A rare multiple congenital anomalies/dysmorphic syndrome characterized by abnormally shaped nose with bilateral proboscis-like nares, bilateral microphthalmia/anophthalmia (exceptionally may be missing in some patients), central nervous system anomalies, neurodevelopmental delay and intellectual disability. Majority of the patients present with brachycephaly/macrobrachycephaly and facial dysmorphism including large forehead, flat supraorbital ridges, sparse and medially absent eyebrows, sparse eyelashes, hypertelorism, telecanthus, epicanthic folds, downslanting palpebral fissures, malar hypoplasia, posteriorly rotated ears with a hypoplastic tragus and large conchae, large philtrum, high-arched and narrow palate, atypical cleft lip and single maxillary central incisor. Additional clinical features may involve bilateral frontal encephalocele, postaxial polydactyly, genital hypoplasia, cryptorchidism.

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 27

外部标识与链接