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Concept information

Cardiovascular Diseases > Heart Diseases > Heart Defects, Congenital > Noonan Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Cardiovascular Abnormalities > Heart Defects, Congenital > Noonan Syndrome
Cardiovascular Diseases > Cardiovascular Abnormalities > Heart Defects, Congenital > Noonan Syndrome
Skin and Connective Tissue Diseases > Connective Tissue Diseases > Noonan Syndrome
Musculoskeletal Diseases > Musculoskeletal Abnormalities > Craniofacial Abnormalities > Noonan Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Musculoskeletal Abnormalities > Craniofacial Abnormalities > Noonan Syndrome

Terme préférentiel

Noonan Syndrome  

Type

  • mesh:Descriptor

Définition

  • 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.

Concept générique

Concepts associés

Synonyme(s)

  • Familial Turner Syndrome
  • Noonan-Ehmke Syndrome
  • Pseudo-Ullrich-Turner Syndrome
  • Turner-Like Syndrome
  • Turner Phenotype with Normal Karyotype
  • Turner's Phenotype, Karyotype Normal
  • Ullrich-Noonan Syndrome

Qualificatif(s) autorisé(s)

Traductions

  • Syndrome de Noonan

    français

  • Phénotype de Turner avec caryotype normal
  • Syndrome de Noonan de type 1

URI

http://data.loterre.fr/ark:/67375/JVR-ZF50VMCJ-9

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RDF/XML TURTLE JSON-LD Date de création 05/12/1977, dernière modification le 01/07/2019