Noonan syndrome

Noonan syndrome

Noonan syndrome is a relatively common autosomal dominant congenital disorder that affects both males and females. It is referred to as the male version of Turner's syndrome; however, the genetic causes of Noonan syndrome and Turner syndrome are distinct. The principal features include congenital heart defect, 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. It is believed that between approximately 1 in 1,000 and 1 in 2,500 children worldwide ar ... more on Wikipedia

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