Noonan syndrome


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Related to Noonan syndrome: Turner syndrome

Noo·nan syn·drome

(nū'năn), [MIM*163950, MIM*163955]
a syndrome found in both males and females, with a phenotype reminiscent of Turner syndrome; characterized by hypertelorism, downslanting of palpebral fissures, webbing of the neck, short stature, and congenital heart disease, especially pulmonary stenosis; normal chromosomal karyotype; autosomal dominant inheritance.

Noonan syndrome

Turner-like syndrome Neonatology A group of specific abnormalities affecting both males and females, both sporadic in appearance but also reflecting a hereditary component, possibly AD Clinical Webbing of neck, pectus excavatum, facial defects–low-set or abnormally shaped ears, ocular ptosis, hypertelorism, epicanthal folds, micrognathia, mild mental retardation, short stature, variable hearing loss, delayed puberty, undescended testicles, small penis, congenital heart disease–often, pulmonary stenosis. Cf Turner syndrome.

Noo·nan syn·drome

(nūn'ăn sin'drōm)
A syndrome found in both males and females, with a phenotype reminiscent of Turner syndrome; characterized by hypertelorism, downslanting of palpebral fissures, webbing of the neck, short stature, and congenital heart disease, especially pulmonary stenosis; normal chromosomal karyotype; autosomal dominant inheritance.

Noonan,

Jacqueline A., U.S. pediatric cardiologist, 1921–.
Noonan syndrome - the male phenotype of Turner syndrome, characterized by congenital heart disease.
References in periodicals archive ?
Pereira et al., "Are Noonan syndrome and Noonan-like/multiple giant cell lesion syndrome distinct entities?," American Journal of Medical Genetics, vol.
Tworog-Dube et al., "Cardiovascular disease in Noonan syndrome," Archives of Disease in Childhood, vol.
The identification of causative mutations that underlie genetically heterogeneous syndromes such as Noonan Syndrome has been greatly facilitated by the emergence of high throughput sequencing.
Rikken et al., "Genotypic and phenotypic characterization of Noonan syndrome: new data and review of the literature," American Journal of Medical Genetics, vol.
Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome.
Behavioral disturbances in Noonan Syndrome: Brazilian preliminary data
The Noonan Syndrome was the first recognized, in 1968; the others are cardio-facio-cutaneous, LEOPARD, and Costello.
Novo Nordisk, which makes healthcare products and insulin for diabetics, received approval for growth hormone therapy Norditropin for the treatment of short stature in children with Noonan syndrome. The condition is characterized by congenital heart defects and unique facial features.
In fact, those strange and endearing little facial features turned out to be a sign baby Connor had Noonan Syndrome, a genetic disorder.