心颅综合征，Pfeiffer型

定义 英文原文（暂无中文）

A rare, multiple congenital anomalies syndrome with intellectual disability commonly characterized by facial dysmorphism (e.g. sagittal craniosynostosis, hypertelorism, strabismus, low-set dysplastic ears, retrognathia or micrognathia, mandibular ankyloses, cleft palate, aplasia uvulae), congenital heart defects (e.g. atrioventricular septal defect, anomalous venous return), genital anomalies (e.g. cryptorchidism, microphallus), as well as growth delay and intellectual disability. In some cases, tracheobronchial anomalies, large joint contractures, syndactyly, rib anomalies and hypoplastic kidneys are reported. Rarely, no cardiac anomaly may be reported.

别名

矢状面颅骨狭窄伴先天性心脏病、精神发育迟滞和下颌关节强直

基本事实

遗传方式

常染色体显性、常染色体隐性、不适用

发病年龄

婴儿期、新生儿期

患病率

<1 / 1 000 000

临床表型 34

外部标识与链接