Noonan Syndrome: Understanding Symptoms, Causes & Management

Noonan syndrome is a relatively uncommon genetic disorder that most often affects skeletal growth and the heart (as with hypertrophic cardiomyopathy) It can range from mild to severe.

Signs & Symptoms can Include:

- Distinctive facial features such as wide-set eyes and a triangular mouth

- Short stature or slow growth.

- Chest deformities.

- Heart murmur or thickening of the heart muscle..

- Bleeding problems like nosebleeds.

- Learning disabilities or developmental delays (such as trouble with learning and coordination and short attention span.)

- Muscular hypotonia

- Broad, short-webbed neck

- Drooping eyelids (Ptosis)

- Skin abnormalities - thin translucent skin; cafe’-au-lait spots that fade over time) ; curly, coarse blonde to reddish-orange hair that darkens with age (rarely, salt and pepper or dark at birth),

- Small chest with widely spaced nipples

- Broad or long nose with slightly upturned nasal tip

- Short fingers/toes & low posterior hairline