Symptoms of Noonan syndrome

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There are many different symptoms associated with Noonan syndrome, and few people with the disorder display all of them. Symptoms vary between individuals and in severity.

Heart defects are present in approximately 80% of children with Noonan syndrome. The most common include:

narrowing of the valve that takes blood from the heart to the lungs (Pulmonary valve stenosis),
thickening of the heart muscles (Hypertrophic cardiomyopathy),
a hole between the upper two chambers of the heart (Atrial septal defect), and
a hole between the lower two chambers of the heart (Ventricular septal defect)

Facial and physical features of Noonan syndrome differ between individuals and can be quite mild. They may include the following:

drooping eyelids (Ptosis),
large downward slanting eyes,
widely spaced eyes (Hyperterlorism),
flat nasal bridge,
short neck with extra skin folds, sometimes described as â€˜webbingâ€™ - the folds may appear on both sides of the back of the neck, giving a round shouldered look,
low hairline on back of neck,
low set ears with frontal lobe rotations, and
short stature in correct proportion.