环状4号染色体综合征

定义 英文原文（暂无中文）

Autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth retardation, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent features are cleft lip and/or cleft palate, congenital cardiovascular, gastrointestinal and genitourinary system anomalies.

别名

r(4)综合征

基本事实

发病年龄

婴儿期、新生儿期

患病率

<1 / 1 000 000

临床表型 4

外部标识与链接