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Noonan syndrome

Genetic condition involving facial, heart, blood and skeletal features

Medical condition

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]

1. ^ ^{a b c d e f g h i j k l m} "Noonan syndrome". Genetics Home Reference. Retrieved 24 December 2018.
2. ^ ^{a b c d e f g} "Noonan Syndrome". NORD (National Organization for Rare Disorders). 2016. Retrieved 24 December 2018.
3. ^ ^{a b c d e f g h i} "Noonan syndrome". Genetic and Rare Diseases Information Center (GARD) – an NCATS Program. Retrieved 25 December 2018.
4. ^ ^{a b c d} Bhambhani V, Muenke M (January 2014). "Noonan syndrome". American Family Physician. 89 (1): 37–43. PMC 4099190. PMID 24444506.
5. ^ "Noonan Syndrome - Children's Health Issues". Merck Manuals Consumer Version. Retrieved 25 December 2018.

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