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Symptoms of Noonan syndrome may include the following:

A characteristic facial appearance.

Short stature.

Heart defect present at birth (congenital heart defect).

A broad or webbed neck.

Minor eye problems such as strabismus in up to 95 percent of individuals.

Bleeding problems such as a history of abnormal bleeding or bruising.

An unusual chest shape with widely-spaced and low set nipples.

Developmental delay of varying degrees, but usually mild.

In males, undescended testes (cryptorchidism).

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Noonan syndrome is caused by changes in one of several autosomal dominant genes. A person may have inherited a mutated gene from one of his or her parents, or the gene change may be a new change due to an error carried by the egg or sperm or occurring at conception.

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Noonan syndrome is a disorder that involves unusual facial characteristics, short stature, heart defects present at birth, bleeding problems, developmental delays, and malformations of the bones of the rib cage.

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There is no single treatment for noonan syndrome, but it's possible to treat many aspects of disorder.

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Because some cases of Noonan syndrome occur spontaneously, there's no known way to prevent it. However, if you have a family history of this syndrome, talk to your doctor about the benefits of genetic counseling before you have children. Noonan syndrome can be detected with molecular genetic testing.

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Children who have one parent with Noonan syndrome who carries the defective gene (autosomal dominant) have a 50 percent chance of developing the disorder.

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WHAT CHROMOSOME IS DISEASE ASSOCIATED WITH

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WHAT CHROMOSOME IS DISEASE ASSOCIATED WITH

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Disease can be found on chromosome 12

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A parent with Noonan syndrome has a 50 percent chance (one chance in two) of passing the defective gene on to his or her child. The child who inherits the defective gene may have fewer or more symptoms than the affected parent.