Noonan syndrome
congenital, genetically widespread disease considered to be a type of dwarfism affecting boys and girls equally
Noonan syndrome (NS) is a genetic disorder that may present with mildly unusual facial features, short height, congenital heart disease, bleeding problems, and skeletal malformations. Facial features include widely spaced eyes, light-colored eyes, low-set ears, a short neck, and a small lower jaw. Heart problems may include pulmonary valve stenosis. The breast bone may either protrude or be sunken, while the spine may be abnormally curved. Intelligence is often normal. Complications of NS can include leukemia. Some of NS' symptoms are shared with Watson syndrome, a related genetic condition.
A number of genetic mutations can result in Noonan syndrome. The condition may be inherited as an autosomal dominant condition or occur as a new mutation. Noonan syndrome is a type of RASopathy, the underlying mechanism for which involves sustained activation of the RAS/MAPK cell signaling pathway.
This brief starts where responsible research should: with the source description of “Noonan syndrome” as congenital, genetically widespread disease considered to be a type of dwarfism affecting boys and girls equally. Everything that follows is an evidence route, not borrowed authority.
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The citation trail is more important than the brevity of the summary: it shows where individual claims can be examined in context. The source revision retrieved here is dated Sep 25, 2026. The linked authority identifier is Q1543446. None of the 0 selected statements returned an explicit reference.
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This entry incorporates text from “Noonan syndrome” on English Wikipedia. Contributors are listed in the page history. Text is available under the Creative Commons Attribution-ShareAlike 4.0 License. Selected authority identifiers and statements are retrieved from Wikidata under CC0; their references and qualifiers remain part of the verification path.