Noonan syndrome

NS is typically inherited in an autosomal dominant pattern with variable expression.

The oldest known case of NS, described in 1883 by Kobylinski

Noonan syndrome (NS) is a relatively common autosomal dominant congenital disorder that affects both males and females and is named after Jacqueline Noonan, a pediatric cardiologist. It is referred to as the male version of Turner's syndrome (and is still sometimes described in this way); however, the genetic causes of Noonan syndrome and Turner syndrome are distinct. The principal features include congenital heart defect (typically pulmonary valve stenosis; also atrial septal defect and hypertrophic cardiomyopathy), short stature, learning problems, pectus excavatum, impaired blood clotting, and a characteristic configuration of facial features including a webbed neck and a flat nose bridge. NS is a RASopathy, and is one of several disorders that are caused by a disruption of RAS-MAPK pathway signaling.

单词	Noonan syndrome
释义	Noonan syndrome 英语百科 Noonan syndrome Noonan syndrome (NS) is a relatively common autosomal dominant congenital disorder that affects both males and females and is named after Jacqueline Noonan, a pediatric cardiologist. It is referred to as the male version of Turner's syndrome (and is still sometimes described in this way); however, the genetic causes of Noonan syndrome and Turner syndrome are distinct. The principal features include congenital heart defect (typically pulmonary valve stenosis; also atrial septal defect and hypertrophic cardiomyopathy), short stature, learning problems, pectus excavatum, impaired blood clotting, and a characteristic configuration of facial features including a webbed neck and a flat nose bridge. NS is a RASopathy, and is one of several disorders that are caused by a disruption of RAS-MAPK pathway signaling.
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