Noonan Syndrome
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Dr Noonan described this syndrome in the 1960s. It is a genetic condition and so there are often several people in the family affected. The underlying problem involves the 12th chromosome. People with Noonan Syndrome are usually rather small, they may have extra skin on the side of their neck. They are similar in appearance to people with Turner Syndrome. Follow this link for more general details about Noonan Syndrome on Online Mendelian Inheritance in Man (OMIM) or GeneTests |
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Heart ProblemsTwo heart problems may occur in people with Noonan's syndrome. The most common is a thickening of the heart muscle called hypertrophic cardiomyopathy. It may occur even in young babies and can be treated with medication. The second problem is a narrowing of the valve in the artery going to the lung - pulmonary stenosis. The narrowing of the valve is caused by thickening of the valve leaflets. Stretching with a balloon may help but sometimes surgery is necessary. |
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This page was last edited 19/2/2004 |
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