Noonan syndrome - Symptoms and causes - Mayo Clinic
WEBMay 25, 2023 · Noonan syndrome is a genetic condition that stops typical development in various parts of the body. It can affect a person in several ways, including unusual facial features, short height, heart problems and other physical problems.
Noonan syndrome - Wikipedia
WEBNoonan 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.
Noonan syndrome - UpToDate
WEBJun 13, 2022 · Noonan syndrome (NS) is a common autosomal-dominant condition that is associated with short stature and congenital heart disease (CHD), most often pulmonic stenosis. It is clinically and genetically heterogeneous.
Noonan Syndrome | Children's Hospital of Philadelphia
WEBNoonan syndrome is a genetic disorder characterized by short stature, distinctive facial features, heart defects, bleeding problems and skeletal abnormalities. Most individuals with Noonan syndrome have normal intelligence, but some may have special educational needs or intellectual disability. Noonan syndrome occurs in about 1 in 2,500 births.
Noonan Syndrome - StatPearls - NCBI Bookshelf
WEBJan 9, 2023 · Noonan syndrome is a genetically inherited disease with heterogeneous, phenotypic manifestations. Gene mutations involve the RAAS/MAPK (mitogen-activated protein kinase) signaling pathway. The patient presentation can range from mild to severe. Thus, Noonan syndrome is typically a clinical diagnosis.
Noonan Syndrome - St. Jude Children’s Research Hospital
WEBNoonan syndrome is a genetic condition that results in facial defects, broad or webbed neck, short stature, lymphedema, feeding problems in newborns and infants, abnormal heart, blood clotting, unusual chest shape, low-set nipples, undescended testicles, and delayed puberty.
Noonan syndrome - Genetic and Rare Diseases Information Center
WEBNoonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. Features of Noonan syndrome may include a distinctive facial appearance, short stature, a broad or webbed neck, congenital heart defects, bleeding problems, problems with bone structure (skeletal malformations), and developmental delay.
Noonan syndrome - Diagnosis and treatment - Mayo Clinic
WEBMay 25, 2023 · Treatment. Although there's no cure for Noonan syndrome, treatments can help decrease its effects. The earlier a diagnosis is made and treatment begins, the greater the benefits. Treatment for Noonan syndrome depends on the symptoms and complications and how serious they are.
About Noonan Syndrome - National Human Genome Research …
WEBDec 23, 2013 · Noonan syndrome is a disorder that involves unusual facial characteristics, short stature, heart defects present at birth, bleeding problems, developmental delays, and malformations of the bones of the rib cage. Noonan syndrome is caused by changes in one of several autosomal dominant genes.
Noonan Syndrome: Clinical Features, Diagnosis, and …
WEBOct 1, 2010 · Noonan syndrome (NS) is a common, clinically and genetically heterogeneous condition characterized by distinctive facial features, short stature, chest deformity, congenital heart disease, and other comorbidities.
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