Noonan Syndrome: An Oerview

Noonan syndrome (NS) is a rare genetic disorder characterized by unique facial features, short stature, and congenital heart defects. It results from mutations in genes like PTPN11, SOS1, RAF1, and RIT1 in the Ras-MAPK pathway. Diagnosing NS involves clinical evaluations and genetic testing. Management includes addressing cardiac issues, growth delay, and providing developmental support. Early detection and a multidisciplinary approach are crucial for optimizing patient outcomes and quality of life. Ongoing research seeks to improve the understanding and treatment of NS.