Noonan Syndrome

📋Overview

Noonan Syndrome is a genetic multisystem disorder that results from mutations affecting the RAS/MAPK signaling pathway, which is critical for normal cell growth and development. This condition leads to a wide range of physical characteristics and clinical findings that include a broad or webbed neck, chest deformities, and cardiovascular issues like pulmonary valve stenosis. Individuals may also experience developmental delays, bleeding disorders, and lymphatic abnormalities. Diagnosis is typically based on clinical evaluation and confirmed through genetic testing.