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Hierarchy  - English - French - German - Spanish - Portuguese - Italian - Dutch    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 the non-receptor type 11 PROTEIN TYROSINE PHOSPHATASE. 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): Turner Syndrome, Male / Female Pseudo-Turner Syndrome / Turner's Syndrome, Male / Female Pseudo Turner Syndrome / See also: Neurofibromatosis 1  LEOPARD Syndrome  Turner Syndrome  MeSH 2010 © U.S. National Library of Medicine®. Browse - New search

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 © Genetics Home Reference Browse - New search       Web resources for "Noonan Syndrome"   English (13)  French (2)  German (2)  Spanish (3)    Italian (3)   = Site with HON description   -   = Site with a robot description info: enter the site: (click below) domain of the site:   Orphanet Journal of Rare Diseases | Full text | Noonan syndrome www.ojrd.com 2 HONcode - Noonan syndrome - Genetics Home Reference ghr.nlm.nih.gov 3 HONcode - ASNOM - Association Amicale Santé Navale et d'Outre Mer www.asnom.org   HONcode - Noonan syndrome: MedlinePlus Medical Encyclopedia www.nlm.nih.gov   HONcode - Noonan syndrome www.healthcentral.com   Whonamedit - Noonan's syndrome www.whonamedit.com   HONcode - Noonan Syndrome Angels: An Italian patient organisation is fighting for them www.eurordis.org   HONcode - Noonan syndrome www.kumc.edu   rare-diseases — National Organization for Rare Disorders www.rarediseases.org   HONcode - Orphanet: Noonan syndrome www.orpha.net 6 For People With CHD www.achaheart.org   See also: - Neurofibromatosis 1 - LEOPARD Syndrome - Turner Syndrome Broader term(s): - Craniofacial Abnormalities - Musculoskeletal Diseases - Connective Tissue Diseases Browse - New search       Medical image(s) for "Noonan Syndrome" click below to enlarge www.hon.ch Dermatology Image Atlas FOOT:Noonan syndrome Copyright © Bernard Cohen, MD click below to enlarge www.hon.ch Dermatology Image Atlas FOOT:Noonan syndrome Copyright © Bernard Cohen, MD click below to enlarge www.hon.ch Dermatology Image Atlas FOOT:Noonan syndrome Copyright © Bernard Cohen, MD click below to enlarge www.hon.ch Dermatology Image Atlas FOOT:Noonan syndrome Copyright © Bernard Cohen, MD See also: - Neurofibromatosis 1 Browse - New search       Medical News for "Noonan Syndrome" No results for this term. More health news Browse - New search       Scientific articles from MEDLINE for "Noonan Syndrome"   - English - French - German - Spanish - Portuguese - Italian - Dutch     All recent articles  Therapy:  by recall    /  by precision  Diagnosis:  by recall    /  by precision  Etiology:  by recall    /  by precision  Prognosis:  by recall    /  by precision Subheadings: complications / diagnosis / embryology / epidemiology / etiology / metabolism / microbiology / surgery / therapy Browse - New search       Clinical Trials for "Noonan Syndrome" ClinicalTrials.gov - Linking patients to medical research Research Study Using Recombinant Human Insulin-Like Growth Factor-1/Recombinant Human Insulin-Like Growth Factor Binding Protein-3 for Children With Noonan Syndrome Effect of MAXOMAT ® on the Growth of Small Children to NOONAN's Syndrome Observational Prospective Study on Patients Treated With Norditropin® Research Study Using Recombinant Human Insulin-Like Growth Factor-1/Recombinant Human Insulin-Like Growth Factor Binding Protein-3 for Children With Noonan Syndrome See also: - Neurofibromatosis 1 - Turner Syndrome Broader term(s): - Craniofacial Abnormalities - Musculoskeletal Abnormalities - Musculoskeletal Diseases - Connective Tissue Diseases Browse - New search       Medical Conferences/Events for "Noonan Syndrome" No results for this term. Consult HON's world-wide database of medical meetings Browse - New search       Refine the search for  "Noonan Syndrome" 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               Abnormalities                   Musculoskeletal Abnormalities                       Craniofacial Abnormalities        Diseases           Musculoskeletal Diseases               Musculoskeletal Abnormalities                   Craniofacial Abnormalities  MeSH 2010 © U.S. National Library of Medicine®. Browse - New search

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