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 ?
Analysis of PTPN11 gene in idiopathic short stature children and Noonan syndrome patients.
The Toronto group found that 'excessive activity of an enzyme called ERK, a downstream target of the RAS pathway, caused HCM in Noonan Syndrome, and successfully used a drug that lowers the activity of this enzyme to decrease pathway activity and normalize all of the features of Noonan Syndrome', said Neel.
Noonan Syndrome is a genetic condition that can affect the heart, growth, blood clotting, as well as mental and physical development.
Multiple marker screen positive results in Noonan syndrome.
The second category includes discussions of data analyses within KIGS, the KIGS etiology classification system, the KIGS experience with growth hormone treatment to final height in idiopathic growth hormone deficiency, KIGS patients with acquired growth hormone deficiency, and results of growth hormone treatment of Noonan syndrome in KIGS.
Scots scientist Mike Patton heads a team that has finally identified the genetic cause of Noonan Syndrome, the rare condition which affects five-year-old Darren.
The charity, which has raised pounds 6 million for medical research, was set up by Sheila Brown, 43, from Cheslyn Hay, Staffs, after her eldest son Greg, now 23, was diagnosed with Noonan syndrome, a birth defect which causes physical and mental disabilities and epilepsy.
Nationwide Children's Hospital (Columbus, Ohio) is conducting tests for congenital muscular dystrophies and is interested in validating NGS testing for Noonan syndrome and related disorders, holoprosencephaly, a birth defect of the brain, and infertility.
Seventeen chapters review the current state of research in areas that include glaucoma susceptibility, Noonan syndrome and related disorders, psoriasis and autoimmunity, cardiac remodeling, human taste, cystic fibrosis, advances in chemical genetics, patterns of natural variation in human genes, and comparative genomic hybridization.
Many of these symptoms can also be confused with signs of CFC, or Noonan syndrome.