Symptoms Associated With Noonan Syndrome

Noonan syndrome is a relatively common genetic condition that occurs in approximately one out of every 1,000 to 2,500 individuals. Symptoms are present from birth, and the disorder develops due to alterations in certain genes. Currently, researchers have identified changes in the KRAS, SOS1, RAF1, and PTPN11 genes that lead to Noonan syndrome. Noonan syndrome can be diagnosed with a clinical examination from a specialist familiar with the condition. In addition, genetic testing is often performed. This syndrome affects both males and females, and symptoms generally include congenital heart problems, short stature, and strabismus or other minor eye issues.