"Campomelic Dysplasia" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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.
- Campomelic Dysplasia
- Campomelic Dysplasias
- Dysplasia, Campomelic
- Dysplasias, Campomelic
- Campomelic Syndrome
- Campomelic Syndromes
- Syndrome, Campomelic
- Syndromes, Campomelic
- Campomelic Dwarfism
- Campomelic Dwarfisms
- Dwarfism, Campomelic
- Dwarfisms, Campomelic
- Cmpd1 Sra1
- Cmpd1 Sra1s
- Sra1, Cmpd1
- Sra1s, Cmpd1
- Camptomelic Dysplasia
- Camptomelic Dysplasias
- Dysplasia, Camptomelic
- Dysplasias, Camptomelic
Acampomelic Campomelic Dysplasia
- Acampomelic Campomelic Dysplasia
- Acampomelic Campomelic Dysplasias
- Campomelic Dysplasia, Acampomelic
- Campomelic Dysplasias, Acampomelic
- Dysplasia, Acampomelic Campomelic
- Dysplasias, Acampomelic Campomelic
Below are MeSH descriptors whose meaning is more general than "Campomelic Dysplasia".
Below are MeSH descriptors whose meaning is more specific than "Campomelic Dysplasia".
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