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Noonan syndrome (NS) includes findings of short stature, heart defects, distinctive facial features, and developmental delays. Other findings may include differences in clotting ability, chest shape, lymph system, and in the eye, etc. Up to 1/3 of individuals with NS have a mild intellectual disability.
This condition is variable even within a family. This can range from subtle physical findings to more extensive changes.
NS is a genetic disorder which can be inherited or caused by a spontaneous gene mutation. About 1 in every 1,000 to 2,500 babies is born with NS.
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This information was last updated in December, 2015.