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Disease Campomelic Dysplasia

Name Campomelic Dysplasia
Synonyms Acampomelic Campomelic Dysplasia | ACAMPOMELIC CAMPOMELIC DYSPLASIA, INCLUDED | Acampomelic Campomelic Dysplasias | ACAMPOMELIC CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, INCLUDED | Campomelic Dwarfism | Campomelic Dwarfisms | Campomelic Dysplasia, Acampomelic | Campomelic Dysplasias | Campomelic Dysplasias, Acampomelic | Campomelic Syndrome | Campomelic Syndromes | Camptomelic Dysplasia | CAMPTOMELIC DYSPLASIA, INCLUDED | Camptomelic Dysplasias | CMD1 | CMPD | CMPD1 | Cmpd1 Sra1 | CMPD1/SRA1 CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, INCLUDED | Cmpd1 Sra1s | Dwarfism, Campomelic | Dwarfisms, Campomelic | Dysplasia, Acampomelic Campomelic | Dysplasia, Campomelic | Dysplasia, Camptomelic | Dysplasias, Acampomelic Campomelic | Dysplasias, Campomelic | Dysplasias, Camptomelic | Sra1, Cmpd1 | Sra1s, Cmpd1 | Syndrome, Campomelic | Syndromes, Campomelic
Definition 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.
Categories Congenital abnormality | Musculoskeletal disease
MeSH® ID D055036
OMIM® ID 114290
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Top ↑ Ancestors

1. DiseasesMusculoskeletal Diseases Has associated chemicals Has associated genes Has associated exposure references Musculoskeletal Abnormalities Has associated chemicals Has associated genes Has associated exposure references Campomelic Dysplasia Has associated chemicals Has associated genes
2. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Musculoskeletal Abnormalities Has associated chemicals Has associated genes Has associated exposure references Campomelic Dysplasia Has associated chemicals Has associated genes

Top ↑ Descendants

Campomelic Dysplasia Has associated chemicals Has associated genes
  Campomelia Cumming type
  Campomelic Dysplasia with Autosomal Sex Reversal
  Camptomelic syndrome long limb type
  Dyssegmental dysplasia, Rolland-Desbuquois type
  Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome
  Pierre Robin sequence with pectus excavatum and rib and scapular anomalies