: MeSH: Campomelic Dysplasia

Musculoskeletal Diseases > Musculoskeletal Abnormalities > Campomelic Dysplasia

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

Campomelic Dysplasia

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).

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