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Concept information

Musculoskeletal Diseases > Musculoskeletal Abnormalities > Campomelic Dysplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Musculoskeletal Abnormalities > Campomelic Dysplasia

Terme préférentiel

Campomelic Dysplasia  

Type

  • mesh:Descriptor

Définition

  • A congenital disorder of CHONDROGENESIS and OSTEOGENESIS characterized by hypoplasia of endochondral bones. In most cases there is a curvature of the long bones especially the TIBIA with dimpling of the skin over the bowed areas, malformation of the pelvis and spine, 11 pairs of ribs, hypoplastic scapulae, club feet, micrognathia, CLEFT PALATE, tracheobronchomalacia, and in some patients male-to-female sex reversal (SEX REVERSAL, GONADAL). Most patients die in the neonatal period of respiratory distress. Campomelic dysplasia is associated with haploinsufficiency of the SOX9 TRANSCRIPTION FACTOR gene. A rarer variant of campomelic dysplasia. The characteristics match campomelic dysplasia except that long bone curvature is not present (acampomelia).

Concept générique

Concepts associés

Synonyme(s)

  • Campomelic Dwarfism
  • Campomelic Syndrome
  • Camptomelic Dysplasia
  • Cmpd1 Sra1

Qualificatif(s) autorisé(s)

Traductions

URI

http://data.loterre.fr/ark:/67375/JVR-TSSKKGQ2-D

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RDF/XML TURTLE JSON-LD Date de création 08/07/2008, dernière modification le 20/10/2015