Campomelic Dysplasia
MESHD055036
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.
Synonyms
- Campomelic Dysplasias
- Dysplasia, Campomelic
- Dysplasias, Campomelic
- Cmpd1 Sra1
- Cmpd1 Sra1s
- Sra1, Cmpd1
- Sra1s, Cmpd1
- Camptomelic Dysplasia
- Camptomelic Dysplasias
- Dysplasia, Camptomelic
- Dysplasias, Camptomelic
- Campomelic Dwarfism
- Campomelic Dwarfisms
- Dwarfism, Campomelic
- Dwarfisms, Campomelic
- Campomelic Syndrome
- Campomelic Syndromes
- Syndrome, Campomelic
- Syndromes, Campomelic
- Acampomelic Campomelic Dysplasia
- Acampomelic Campomelic Dysplasias
- Campomelic Dysplasia, Acampomelic
- Campomelic Dysplasias, Acampomelic
- Dysplasia, Acampomelic Campomelic
- Dysplasias, Acampomelic Campomelic
Source last updated 2026-05-24T15:24:44.734Z