Search Login Register

Campomelic Dysplasia Summary

Description: 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 gene (SRY-related HMG-box gene 9).

Also Known As: Acampomelic Campomelic Dysplasia; Camptomelic Dysplasia; Acampomelic Campomelic Dysplasias; Campomelic Dysplasia, Acampomelic; Campomelic Dysplasias Show All >>

Networked: 42 relevant articles (0 outcomes, 0 trials/studies) for this Disease

Key Drugs and Agents for Campomelic Dysplasia

Efficacy Chart >>
Drugs and Important Biological Agents (IBA) related to treatments:
  1. Transcription Factors (Transcription Factor) : 9 results : IBA
  2. SOX9 Transcription Factor : 4 results : IBA
  3. H-Y Antigen : 3 results : IBA
  4. DNA (Deoxyribonucleic Acid) : 3 results : IBA
  5. Kyphomelic dysplasia : 3 results : IBA
  6. Nonsense Codon (Nonsense Mutation) : 2 results : IBA
  7. Jeune syndrome : 2 results : IBA
  8. XY female 46 : 2 results : IBA
  9. type 4 Waardenburg syndrome : 2 results : IBA
  10. Diastrophic dysplasia : 2 results : IBA
Show All >>

Diseases Related to Campomelic Dysplasia

  1. Osteogenesis Imperfecta (Lobstein Disease)
  2. Thanatophoric Dysplasia (Dwarfism, Thanatophoric)
  3. Achondroplasia
  4. Hypophosphatasia
  5. Ellis-Van Creveld Syndrome (Chondroectodermal Dysplasia)
Show All >>

Key Therapies for Campomelic Dysplasia

Efficacy Chart >>
  1. Airway Management : 1 result
  2. Osteotomy : 1 result

CureHunter Inc. provides medical information and specifically does NOT provide medical advice.
© Copyright 2003-2016 CureHunter Inc., MeSH copyright NLM, Journal Articles copyright original owners.