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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 gene (SRY-related HMG-box gene 9).
Also Known As:
Acampomelic Campomelic Dysplasia; Camptomelic Dysplasia; Acampomelic Campomelic Dysplasias; Campomelic Dysplasia, Acampomelic; Campomelic Dysplasias; Campomelic Dysplasias, Acampomelic; Camptomelic Dysplasias; Dysplasia, Acampomelic Campomelic; Dysplasia, Campomelic; Dysplasia, Camptomelic; Dysplasias, Acampomelic Campomelic; Dysplasias, Campomelic; Dysplasias, Camptomelic
Networked: 42 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

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

Experts

1. Scherer, Gerd: 3 articles (06/2005 - 06/2003)
2. Harley, V R: 3 articles (07/2001 - 05/2001)
3. Petit, Florence: 2 articles (11/2015 - 12/2013)
4. Mead, Timothy J: 2 articles (06/2015 - 04/2013)
5. Wang, Qiuqing: 2 articles (06/2015 - 04/2013)
6. Lefebvre, Véronique: 2 articles (06/2015 - 04/2013)
7. Bhattaram, Pallavi: 2 articles (06/2015 - 04/2013)
8. Wegner, Michael: 2 articles (06/2010 - 06/2003)
9. Mornet, Etienne: 1 article (11/2015)
10. Isnard, Monica: 1 article (11/2015)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Campomelic Dysplasia:
1. Transcription Factors (Transcription Factor)IBA
2. SOX9 Transcription FactorIBA
3. H-Y AntigenIBA
4. DNA (Deoxyribonucleic Acid)IBA
5. Kyphomelic dysplasiaIBA
6. Nonsense Codon (Nonsense Mutation)IBA
7. Jeune syndromeIBA
8. XY female 46IBA
9. type 4 Waardenburg syndromeIBA
10. Diastrophic dysplasiaIBA

Therapies and Procedures

1. Airway Management
2. Osteotomy