Who should be tested for Noonan syndrome?

Noonan syndrome (NS) should be suspected in individuals with the following key features:

•Characteristic facial features inncluding low-set, posteriorly rotated ears, vivid blue or blue-green irises, and eyes that are often wide-spaced, downslanted, and with epicanthal folds and fullness or droopiness of the upper eyelids (ptosis).
•Short stature
•Congenital heart defect, most commonly pulmonary valve stenosis, atrial septal defect, and/or hypertrophic cardiomyopathy
•Developmental delay
•Broad or webbed neck
•Unusual chest shape with superior pectus carinatum, inferior pectus excavatum
•Widely set nipples
•Cryptorchidism (descended testes) in males

Speak to a genetic counselor or a medical geneticist to learn more about getting tested for Noonan syndrome.

Other Questions About Noonan syndrome

• Who should be tested for Noonan syndrome?
• Where did the name Noonan syndrome come from?
• What websites have good information about Noonan syndrome?
• What types of doctors should someone with Noonan syndrome see?
• What other syndromes look like Noonan syndrome?