What is Noonan Syndrome?

€¢ Noonan Syndrome: A rare genetic disorder characterized by a webbed neck, chest deformity, undescended testes and pulmonic stenosis. €¢ Noonan Syndrome: A cardiofacial syndrome with a variable phenotype, which may change with age, many characteristics of which overlap those of the Turner syndrome. Short stature and mild mental retardation are the main features of this syndrome.

Webbed neck, heart defects, chest deformities, characteristic facial features, and other abnormalities, and occasional hyperpyrexia may be associated. Cardiofaciocutaneous and Noonan syndromes are sometimes considered the same entity. Source - Diseases Database Noonan Syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH).

This means that Noonan Syndrome, or a subtype of Noonan Syndrome, affects less than 200,000 people in the US population. Source - National Institutes of Health (NIH) Ophanet, a consortium of European partners, currently defines ... more.

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