Noonan syndrome

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Noonan syndrome is a genetic disorder. It affects between 1 in 1,000 to 1 in 2,500 people. It can vary in severity, and mildly-affected individuals may remain undiagnosed. The disorder is characterised by a range of symptoms and physical features. It is often associated with heart defects and short stature. Facial characteristics may appear to change as the individual ages.

Noonan Syndrome takes its name from Dr. Jacqueline Noonan, a Paediatric Cardiologist in the United States. She noticed that many children attending her clinic with narrowing of the pulmonary valves were also short and had similar facial features. The first description was in 1963.

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