"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.
| Descriptor ID |
D055036
|
| MeSH Number(s) |
C05.660.142 C16.131.621.142
|
| Concept/Terms |
Campomelic Dysplasia- Campomelic Dysplasia
- Campomelic Dysplasias
- Dysplasia, Campomelic
- Dysplasias, Campomelic
- Camptomelic Dysplasia
- Camptomelic Dysplasias
- Dysplasia, Camptomelic
- Dysplasias, Camptomelic
- Cmpd1/Sra1
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".
This graph shows the total number of publications written about "Campomelic Dysplasia" by people in this website by year, and whether "Campomelic Dysplasia" was a major or minor topic of these publications.
![]()
To see the data from this visualization as text,
click here.
Below are the most recent publications written about "Campomelic Dysplasia" by people in Profiles.