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Noonan Syndrome
Definition: A 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 MENTAL RETARDATION. The phenotype bears similarities to that of TURNER SYNDROME that occurs only in females and has its basis in a 45, X karyotype abnormality. However, Noonan syndrome occurs in both males and females with a normal sex chromosome constitution (46,XX and 46,XY). NS1 is due to mutations at chromosome location 12q24.1, in PTPN11, a gene encoding PROTEIN TYROSINE PHOSPHATASE, NON-RECEPTOR TYPE 11. LEOPARD SYNDROME, a disorder that has clinical features overlapping those of Noonan Syndrome, is also due to mutations in PTPN11. In addition, there is a syndrome called neurofibromatosis-Noonan syndrome. Both the PTPN11 and NF1 gene products are involved in the SIGNAL TRANSDUCTION pathway of Ras (RAS PROTEINS).

Synonym(s): Male Turner Syndrome / Turner Syndrome, Male / Female Pseudo-Turner Syndrome / Turner's Syndrome, Male / Female Pseudo Turner Syndrome / Male Turner Syndromes / Male Turner's Syndrome / Pseudo-Turner Syndrome, Female / Syndrome, Female Pseudo-Turner / Syndrome, Male Turner / Syndrome, Male Turner's / Syndrome, Noonan / Syndromes, Male Turner / Turner Syndromes, Male / Turners Syndrome, Male
See also:
Neurofibromatosis 1  Costello Syndrome  LEOPARD Syndrome 
Turner Syndrome 

MeSH 2010 © U.S. National Library of Medicine®.
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  More information from the Genetics Home Reference Website
What is Noonan syndrome?
Noonan syndrome is a developmental disorder characterized by unusual facial characteristics, short stature, heart defects, bleeding problems, and skeletal malformations. Eye abnormalities occur in up to 95 percent of patients. Problems with language and speech are common. Most males with this disorder have undescended testicles (cryptorchidism). The majority of children diagnosed with Noonan syndrome have normal intelligence, but a small percentage have special educational needs, and some affected individuals are mildly mentally retarded.

How common is Noonan syndrome?
Noonan syndrome occurs in approximately 1 in 1,000 to 2,500 people.


More information from the Genetics Home Reference Website
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  Web resources for "Noonan Syndrome"
  English (15)  French (2)  German (2)  Spanish (1)  Portuguese (1)  Italian (4)  

= Site with HON description   -   = Site with a robot description
info: enter the site: (click below) domain of the site:  
view the HON description of the site HONcode - Noonan syndrome - Genetics Home Referenceghr.nlm.nih.gov 7
view the robot description of the site Orphanet Journal of Rare Diseases | Full text | Noonan syndromewww.ojrd.com 2
view the HON description of the site HONcode - Statins 'reverse' Noonan syndrome learning disabilities - Medical News Todaywww.medicalnewstoday.com  
view the HON description of the site HONcode - Noonan syndrome: MedlinePlus Medical Encyclopediawww.nlm.nih.gov  
view the HON description of the site HONcode - Noonan syndromewww.healthcentral.com  
view the HON description of the site HONcode - Forgotten Diseases Research Foundation | Global Growth Curves www.forgottendiseases.org 2
view the robot description of the site Whonamedit - Noonan's syndromewww.whonamedit.com  
view the HON description of the site HONcode - Noonan Syndrome Angels: An Italian patient organisation is fighting for them www.eurordis.org  
view the HON description of the site HONcode - Noonan syndromewww.kumc.edu  
view the robot description of the site rare-diseases — National Organization for Rare Disorderswww.rarediseases.org  
view the HON description of the site HONcode - Orphanet: Noonan syndromewww.orpha.net 3
view the robot description of the site The Noonan Syndrome Support Group Websitewww.noonansyndrome.org  
view the robot description of the site Cardiovascular Genetics at Children's Hospital Bostonwww.childrenshospital.org  
view the robot description of the site CostelloKids | UK charity number 1085605www.costellokids.co.uk  
view the robot description of the site CHIN: Online Supportwww.tchin.org  
 
 

See also: - Neurofibromatosis 1 - Costello Syndrome - LEOPARD Syndrome - Turner Syndrome

Broader term(s): - Craniofacial Abnormalities - Musculoskeletal Abnormalities - Musculoskeletal Diseases - Connective Tissue Diseases - Skin and Connective Tissue Diseases
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  Medical image(s) for "Noonan Syndrome"
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See also: - Turner Syndrome
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  Medical News for "Noonan Syndrome"
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  Scientific articles from MEDLINE for "Noonan Syndrome"
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Subheadings: complications / diagnosis / embryology / epidemiology / etiology / metabolism / microbiology / surgery / therapy

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Subheadings: complications / diagnosis / embryology / epidemiology / etiology / metabolism / microbiology / surgery / therapy


  Broader term(s):
      Diseases
          Skin and Connective Tissue Diseases
              Connective Tissue Diseases 
      Diseases
          Congenital, Hereditary, and Neonatal Diseases and Abnormalities
              Congenital Abnormalities
                  Musculoskeletal Abnormalities
                      Craniofacial Abnormalities 
      Diseases
          Musculoskeletal Diseases
              Musculoskeletal Abnormalities
                  Craniofacial Abnormalities 

MeSH 2010 © U.S. National Library of Medicine®.

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