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Genetic condition involving facial, heart, blood and skeletal features
Medical condition
Noonan syndrome
Other names
Male Turner syndrome, Noonan–Ehmke syndrome, Turner-like syndrome, Ullrich–Noonan syndrome[1]
A 12-year-old girl with Noonan syndrome, displaying typical webbed neck and double structural curve with rib deformity.
Suspected based on symptoms, confirmed with genetic testing[4][2]
Differential diagnosis
Cardiofaciocutaneous syndrome, Turner syndrome, Costello syndrome, neurofibromatosis type 1[2][3]
Treatment
Based on the symptoms[3]
Medication
Growth hormone[3]
Prognosis
Depends on the severity of heart problems[3]
Frequency
1 in 1000 (1 in 2,000 severe disease)[4]
Named after
Jacqueline Noonan
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.[1] Facial features include widely spaced eyes, light-colored eyes, low-set ears, a short neck, and a small lower jaw.[1] Heart problems may include pulmonary valve stenosis.[1] The breast bone may either protrude or be sunken, while the spine may be abnormally curved.[1] Intelligence is often normal.[1] Complications of NS can include leukemia.[1]
A number of genetic mutations can result in Noonan syndrome.[1] The condition may be inherited as an autosomal dominant condition or occur as a new mutation.[3][1] Noonan syndrome is a type of RASopathy, the underlying mechanism for which involves attenuation of the RAS/MAPK cell signaling pathway.[1] The diagnosis may be suspected based on symptoms, medical imaging, and blood tests.[2][4] Confirmation may be achieved with genetic testing.[2]
No cure for NS is known.[5] Treatment is based on the symptoms and underlying problems, and extra support in school may be required.[3] Growth hormone therapy during childhood can increase an affected person's final height.[3] Long-term outcomes typically depend on the severity of heart problems.[3]
An estimated 1 in 1,000 people are mildly affected by NS, while about 1 in 2,000 have a more severe form of the condition.[4] Males appear to be affected more often than females.[2] The condition was named after American pediatric cardiologist Jacqueline Noonan, who described her first case in 1963.[2]
^ abcdefghijklm"Noonan syndrome". Genetics Home Reference. Retrieved 24 December 2018.
^ abcdefg"Noonan Syndrome". NORD (National Organization for Rare Disorders). 2016. Retrieved 24 December 2018.
^ abcdefghi"Noonan syndrome". Genetic and Rare Diseases Information Center (GARD) – an NCATS Program. Retrieved 25 December 2018.
^ abcdBhambhani V, Muenke M (January 2014). "Noonan syndrome". American Family Physician. 89 (1): 37–43. PMC 4099190. PMID 24444506.
^"Noonan Syndrome - Children's Health Issues". Merck Manuals Consumer Version. Retrieved 25 December 2018.
Noonansyndrome (NS) is a genetic disorder that may present with mildly unusual facial features, short height, congenital heart disease, bleeding problems...
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syndrome; neurocardiofacial-cutaneous syndromes such as Noonansyndrome, Costello syndrome, Gorlin syndrome, (also known as basal cell nevus syndrome)...
regulation, and cell migration. Mutations in this gene are a cause of Noonansyndrome as well as acute myeloid leukemia. This phosphatase, along with its...
important role in embryogenesis and is observed in several fetal organs. Noonansyndrome is an autosomal dominant multisystem disorder characterized by a wide...
as a syndrome. In cases where the underlying cause is known the syndrome is named as for example Down syndrome and Noonansyndrome. Other syndromes such...
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genetic disorder now called Noonansyndrome. She was also the original describer of hypoplastic left heart syndrome. Noonan was born October 28, 1928,...
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genetic syndromes can result growth chart patterns with a typical pattern. Genetic diseases such as Turner's syndrome, Prader Willi, and Noonansyndrome can...
with Down syndrome, Turner syndrome, or Noonansyndrome. If it is diagnosed in the third trimester, then chances of association with Down syndrome are increased...
similar to the unknown syndrome.[citation needed] For example, researchers looked at and around the most common Noonansyndrome mutation, PTPN11, but did...
Watson syndrome is an autosomal dominant condition characterized by Lisch nodules of the ocular iris, axillary/inguinal freckling, pulmonary valvular stenosis...
needed] It is a feature of Turner syndrome (only found in girls) and Noonansyndrome, as well as the rarer Klippel–Feil syndrome, or Diamond–Blackfan anemia...
needed] When present at birth, it can be an indication of Turner syndrome or Noonansyndrome. It can also be acquired through fracture or other trauma. The...
a small community Noonan, Missouri, a ghost town Noonan, North Dakota, a city Nunan Noonansyndrome, named after Jacqueline Noonan This page lists people...
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