Disease or Syndrome
noonan syndrome

[ noo-nun sin-drome ]
Subclass of:
Craniofacial Abnormalities;
Connective Tissue Diseases;
Congenital Heart Defects
Also called:
Noonan's Syndrome
Definitions related to noonan syndrome:
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A genetic syndrome caused by mutations in the PTPN11 gene (greater than 50% of the cases) or less frequently mutations in the SOS1, RAF1, or KRAS genes. It is characterized by short stature, webbed neck, hypertelorism, low-set ears, deafness, and thrombocytopenia or abnormal platelet function.ACC/AHA Clinical Data TerminologyAmerican College of Cardiology and American Heart Association , 2020
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A genetically heterogeneous, multifaceted disorder characterized by short stature, webbed neck, ptosis, skeletal malformations, hypertelorism, hormonal imbalance, CRYPTORCHIDISM, multiple cardiac abnormalities (most commonly including PULMONARY VALVE STENOSIS), and some degree of INTELLECTUAL DISABILITY. The phenotype bears similarities to that of TURNER SYNDROME that occurs only in females and has its basis in a 45, X karyotype abnormality. Noonan syndrome occurs in both males and females with a normal karyotype (46,XX and 46,XY). Mutations in a several genes (PTPN11, KRAS, SOS1, NF1 and RAF1) have been associated the NS phenotype. Mutations in PTPN11 are the most common. LEOPARD SYNDROME, a disorder that has clinical features overlapping those of Noonan Syndrome, is also due to mutations in PTPN11. In addition, there is overlap with the syndrome called neurofibromatosis-Noonan syndrome due to mutations in NF1.NLM Medical Subject HeadingsU.S. National Library of Medicine, 2021
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A predominantly autosomal dominant condition typically caused by mutation(s) in genes encoding proteins involved in the RAS-MAP kinase pathway, disrupting the regulation of cell growth and division. The condition is characterized by short stature, webbed neck, hypertelorism, low-set ears, deafness, pectus excavatum/carinatum, right sided cardiac anomalies (pulmonary stenosis, hypertrophic cardiomyopathy), bleeding disorders, and an increased risk of leukemia. Fifty percent of individuals with Noonan syndrome have mutation(s) in the PTPN11 gene, encoding tyrosine-protein phosphatase non-receptor type 11.NICHD Pediatric TerminologyU.S. National Cancer Institute, 2021
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Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to one fourth of affected individuals have mild intellectual disability, and language impairments in general are more common in NS than in the general population.GeneReviewsUniversity of Washington, 2021
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Noonan syndrome is a genetic defect that causes a number of physical abnormalities, including short stature, heart defects, and an abnormal appearance.Merck & Co., Inc., 2020
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Noonan syndrome was first recognized as a unique entity in 1963 when Noonan and Ehmke described a series of patients with unusual facies and multiple malformations, including congenital heart disease. These patients were previously thought to have a form of Turner syndrome, with which Noonan syndrome shares numerous clinical features.WebMD, 2019
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Noonan syndrome is a genetic disorder that prevents normal development in various parts of the body. A person can be affected by Noonan syndrome in a wide variety of ways. These include unusual facial characteristics, short stature, heart defects, other physical problems and possible developmental delays.Mayo Foundation for Medical Education and Research
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Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. Features of Noonan syndrome may include a distinctive facial appearance, short stature, a broad or webbed neck, congenital heart defects, bleeding problems, problems with bone structure (skeletal malformations), and developmental delay....National Center for Advancing Translational Sciences
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Noonan syndrome (NS) is a relatively common, autosomal-dominant, inherited disorder that is predominantly characterized by short stature, subtle facial dysmorphisms, chest deformity, congenital heart disease, and variable degrees of developmental delay.Coagulation defects, cryptorchidism in men, and lymphatic dysplasia are not uncommon.Athenahealth, Inc., 2019
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