Diseases

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.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

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.

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Classification

Broader headings

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MeSH Record

See Also

MeSH Record

Synonyms

25 entry terms
  • Campomelic Dwarfism
  • Campomelic Syndrome
  • Camptomelic Dysplasia
  • Cmpd1 Sra1
  • Campomelic Dwarfisms
  • Campomelic Dysplasias
  • Campomelic Syndromes
  • Camptomelic Dysplasias
  • Cmpd1 Sra1s
  • Dwarfism, Campomelic
  • Dwarfisms, Campomelic
  • Dysplasia, Campomelic
  • Dysplasia, Camptomelic
  • Dysplasias, Campomelic
  • Dysplasias, Camptomelic
  • Sra1, Cmpd1
  • Sra1s, Cmpd1
  • Syndrome, Campomelic
  • Syndromes, Campomelic
  • Acampomelic Campomelic Dysplasia
  • Acampomelic Campomelic Dysplasias
  • Campomelic Dysplasia, Acampomelic
  • Campomelic Dysplasias, Acampomelic
  • Dysplasia, Acampomelic Campomelic
  • Dysplasias, Acampomelic Campomelic

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

History Note

2009

MeSH Hierarchy

Tree Numbers

  1. C05w.660w.142w
  2. C16w.131w.621w.142w

AMA Style

References

  1. National Library of Medicine. Campomelic Dysplasia. Medical Subject Headings (MeSH). 2026. Unique ID D055036. http://id.nlm.nih.gov/mesh/2026/D055036
  2. Campomelic Dysplasia. In: Wikipedia. https://en.wikipedia.org/wiki/Campomelic_dysplasia
  3. Campomelic Dysplasia. In: Wikidata. https://www.wikidata.org/wiki/Q1031536