Noonan Syndrome

Noonan syndrome (NS) is a genetic condition with multiple associated characteristics including short stature, congenital heart disease, distinctive facial features, skeletal anomalies, and developmental delays. NS is an autosomal dominant disorder and can either be inherited from an affected parent or can occur because of a spontaneous gene mutation. This condition has been estimated to occur in approximately one in 1,000 to one in 2,500 births. NS belongs to a family of genetic syndromes known as “RASopathies,” which refers to the fact that all these conditions are caused by mutations in a common cellular signaling pathway (known as the RAS-MAPK signaling pathway). NS can be caused by mutations in one of several different genes. About 50% of people with NS have mutations in the PTPN11 ...