Understanding Noonan Syndrome

Noonan syndrome (NS) is a variably expressed, multisystem disorder with an estimated prevalence of 1 in 1,000 – 2,500 births. People with NS may experience bleeding issues, congenital heart defects including hypertrophic cardiomyopathy and/or pulmonary valve stenosis, lymphatic abnormalities, small stature/growth issues, feeding and gastrointestinal issues, failure to thrive, hypertelorism, learning disorders, autism, unexplained chronic pain, chiari malformation, hypotonia, ptosis, skeletal malformations, laryngomalacia, tracheomalacia, opthamology issues, orthopaedic issues, oncology issues and much, much more. Because of the variability in presentation and the need for multidisciplinary care, it is essential that the condition be identified and managed comprehensively.

In 1962, Jacqueline Noonan, a pediatric cardiologist, identified 9 patients whose faces were remarkably similar and who, in addition, had short stature, significant chest deformities, and pulmonary stenosis. In 1968, Dr. Noonan published a case series with these 9, plus an additional 10 patients. The eponym “Noonan Syndrome” was adopted in recognition of Dr. Noonan, because she was the first to indicate that this condition occurred in both genders, was associated with normal chromosomes, included congenital heart defects, and could be familial.