Noonan syndrome
Definition
Noonan syndrome is a condition usually involving a heart problem found at birth, short stature, a broad or webbed neck, pectus excavatum and pectus carinatum (chest deformities), as well as a range of developmental delays. Occasionally, café-au-lait spots (a skin finding) and other features of neurofibromatosis may be present.
Description
First described by the pediatrician and heart specialist Jacqueline Noonan in 1963, Noonan syndrome includes numerous specific features. However, no two affected individuals typically have the exact same combination of these characteristics. As of 2001, there still is no defined list of criteria to diagnose the condition, and no molecular
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