Noonan Syndrome

Noonan syndrome is characterized by facial features such as wide-set and droopy eyes, green or pale blue irises, low-set and rotated (backward) ears, wide-based and bulbous nose, deeply grooved philtrum, and poker-faced. Other symptoms include heart disease, growth and musculoskeletal issues, learning disabilities, lymphatic conditions, genital and kidney conditions, vision and hearing problems, bleeding disorders, and skin conditions. This rare syndrome is due to genetic mutation which may be both inherited or random. This was comprehensively described by Jacqueline Noonan in 1963 with her paper, “Associated Non-cardiac Malformations in Children with Congenital Heart Disease”.