DefinitionBy Mayo Clinic staff
Noonan syndrome is a genetic disorder that prevents normal development in various parts of the body. A person can be affected by Noonan syndrome in various ways. These include unusual facial characteristics, short stature, heart defects, other physical problems and possible developmental delays.
Noonan syndrome is caused by a genetic mutation and is acquired when a child inherits a copy of an affected gene from a parent (dominant inheritance). It can also occur as a spontaneous mutation, meaning there's no family history involved.
There's no specific treatment for Noonan syndrome. Management focuses on controlling the disease's symptoms and complications. Growth hormone may be used to treat short stature in some people with Noonan syndrome.
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