What Is Noonan Syndrome?

Noonan syndrome is a genetic condition with an incidence of 1 in 1,000 to 1 in 2,500 live births. 

Common features of the condition include congenital heart disease, short stature, distinctive facial features, bleeding disorders, and learning disabilities.  While these features are common, none of them occur 100 percent of the time. The presentation is variable, and a person with Noonan syndrome may not have every feature. 

Management of a patient with Noonan syndrome is specific to the individual’s features.