Category: Genetic Disorders / RASopathies
Noonan Syndrome is a genetic disorder caused by mutations in genes involved in the RAS-MAPK pathway (e.g., PTPN11, SOS1, RAF1, RIT1), characterized by distinctive facial features, short stature, congenital heart defects (especially pulmonary valve stenosis), and varying degrees of developmental delay.
Estimated at 1 in 1,000 to 1 in 2,500 live births worldwide (Source: Noonan Syndrome Foundation).
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