Noonan syndrome
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British pronunciation/nˈuːnən sˈɪndɹəʊm/
American pronunciation/nˈuːnən sˈɪndɹoʊm/

"Noonan syndrome" 的定义和意义

Noonan syndrome
01

努南综合征

genetic disorder with characteristic facial features, short stature, developmental delays, and heart defects caused by mutations affecting cell signaling proteins

What is "Noonan syndrome"?

Noonan syndrome is a genetic disorder that affects various parts of the body, causing a wide range of symptoms. It is typically characterized by distinctive facial features, such as widely spaced eyes, low-set ears, and a short neck. Other common features include being shorter than average, heart problems, developmental delays, and bleeding problems. Noonan syndrome can also affect the muscles, bones, and other organs. The seriousness of symptoms can vary widely among affected individuals, even within the same family. Treatment for Noonan syndrome focuses on managing the specific symptoms and complications associated with the condition. This may involve regular medical monitoring, surgery, medications, or other actions adjusted to the individual's needs.

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