Aarskog-Scott 综合征
基因病名称(英)
Aarskog-Scott syndrome
别名(英)
Faciodigitogenital syndrome,Faciogenital dysplasia,Faciogenital dysplasia with attention deficit-hyperactivity disorder
别名
面生殖器综合征、面生殖器发育不良、面生殖器发育不良伴注意力缺陷多动障碍
统计
reviewed:1; annotated:0
交叉引用
305400,C0175701,C1844569,C3275558,CN069557,D001289
描述(英)
An X-linked recessive, rare multisystemic disorder characterized by disproportionately short stature, and by facial, skeletal and urogenital anomalies. Some patients manifest mental retardation, attention deficit disorder and hyperactivity.
描述
一种 X 连锁隐性、罕见的多系统疾病，其特征是身材异常矮小，以及面部、骨骼和泌尿生殖系统异常。一些患者表现出智力低下、注意力缺陷障碍和多动症。