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 ?
Germline gain-of-function mutations in RAF1 cause Noonan syndrome.
A case of Noonan syndrome combined with infundibular pulmonic stenosis.
In the following interview, parent advocate Anne de Groot discusses the life-changing challenge of raising a child with Noonan syndrome.
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.
The CardioGeneScan tests for disease-causing variation in all genes known to be associated with familial cardiovascular diseases, including, cardiomyopathy, arrhythmia, thoracic aortic aneurysm, Noonan Syndrome and related diseases, and early-onset coronary artery disease.
Type of CVG Associated disease Primary essential CVG None Primary nonessential CVG Neurological: seizures, mental retardation Ocular: cataracts, optic atrophy Secondary * Acromegaly * Amyloidosis * Cylindroma * Connective tissue nevus * Focal mucinosis * Klinefelter syndrome * Leukemia * Myxedema * Melanocyte nevi'hamartomas * Neurofibroma * Nevus lipomatosus * Noonan syndrome * Pachydermoperiostosis * Tuberous sclerosis * Turner syndrome CVG Cutis verticis gyrata
IPLEX is also being investigated for various other indications with unmet medical needs, including extreme insulin resistance, myotonic muscular dystrophy and HIV Associated Adipose Redistribution Syndrome (HARS) and short stature in children with Primary IGFD associated with Noonan Syndrome.