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Genetic and Rare Diseases Information Center (GARD)

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Campomelic dysplasia


Other Names for this Disease

  • CMD1
  • CMPD
  • CMPD1
  • CMPD1/SRA1
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Campomelic dysplasia is a severe disorder that affects the development of the skeleton and reproductive system. This condition is often life-threatening in the newborn period. Affected individuals are typically born with bowing of the long bones in the legs and may also have bowing in the arms; short legs; dislocated hips; underdeveloped shoulder blades; bone abnormalities in the neck; feet that are abnormally rotated (club feet); external genitalia that do not look clearly male or clearly female (ambiguous genitalia); distinctive facial features (including a small chin, prominent eyes, flat face, a large head compared to their body size); a particular group of physical features, called Pierre-Robin sequence; and other abnormalities. It is caused by mutations in the SOX9 gene and is inherited in an autosomal dominant pattern, although most cases result from a new mutation in the affected individual.[1] Treatment typically includes multiple surgeries to correct some of the above-mentioned abnormalities.[2] When affected individuals have features of this disorder but do not have bowed limbs, they are said to have acampomelic campomelic dysplasia.[1]
Last updated: 12/29/2010

References

  1. Campomelic dysplasia. Genetics Home Reference. May 2009; http://ghr.nlm.nih.gov/condition/campomelic-dysplasia. Accessed 12/29/2010.
  2. Sheila Unger, Gerd Scherer, Andrea Superti-Furga. Campomelic dysplasia. GeneReviews. July 31, 2008; http://www.ncbi.nlm.nih.gov/books/NBK1760/#campo-dysp.Management. Accessed 12/29/2010.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Campomelic dysplasia. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Campomelic dysplasia. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • CMD1
  • CMPD
  • CMPD1
  • CMPD1/SRA1
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.