Intellectual disability-nasal speech-craniofacial dysmorphism syndrome

定义 英文原文（暂无中文）

A rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, hypotonia and characteristic nasal speech associated with language delay. Distinctive craniofacial dysmorphic features include a high and flat forehead, straight and thick eyebrows, deep-set eyes, upslanting palpebral fissures, short triangular nose with anteverted nares, thin upper lip, mild micrognathia/retrognathia, and low-set ears. Feeding problems, seizures, behavioral abnormalities, variable skeletal and hand/foot anomalies may also be present in some patients. This syndrome can develop in patients harboring CNOT2 mutation or intragenic deletion, or presenting with 12q15q21 microdeletion.

基本事实

遗传方式

常染色体显性

发病年龄

儿童期、婴儿期

患病率

<1 / 1 000 000

外部标识与链接