The Full form of NS is Noonan Syndrome. NS is a disorder that involves unusual facial characteristics, heart defects present at birth, short stature, bleeding problems, developmental delays, and malformations of the bones of the rib cage. Noonan Syndrome (NS) is caused by changes in one of several autosomal dominant genes. A person who has NS may have inherited mutated (an altered) gene from one of his or her parents, or the gene change may be a new change due to an error carried by the sperm or egg or occurring at conception. Symptoms of NS may include 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. Treatment for individuals who have NS is based on their particular symptoms. Heart problems are treated in the same way as for individuals in the general population. Early intervention programs are used to help with developmental disabilities, when present.
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