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. Treatment for Noonan syndrome includes regular monitoring and is tailored to each patient's symptoms. Treatment is typically provided by the child's pediatrician and a specialist team that may include cardiologists, geneticists, and others.
Some of the major symptoms associated with Noonan syndrome are outlined below.