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Campomelic Dysplasia MeSH Descriptor Data 2023


MeSH Heading
Campomelic Dysplasia
Tree Number(s)
C05.660.142
C16.131.621.142
Unique ID
D055036
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D055036
Scope Note
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.
Entry Term(s)
Acampomelic Campomelic Dysplasia
Campomelic Dwarfism
Campomelic Syndrome
Camptomelic Dysplasia
Cmpd1 Sra1
See Also
Pierre Robin Syndrome
Public MeSH Note
2009
History Note
2009
Date Established
2009/01/01
Date of Entry
2008/07/08
Revision Date
2015/10/20
Campomelic Dysplasia Preferred
Acampomelic Campomelic Dysplasia Narrower
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