What Is Noonan Syndrome?
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