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Spondyloepiphyseal dysplasia congenita


Other Names for this Disease

  • SED congenita
  • SEDC
  • Spondyloepiphyseal dysplasia, congenital type
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Overview

Spondyloepiphyseal dysplasia congenita is an inherited disorder of bone growth that affects the bones of the spine and ends of the long bones in the arms and legs. Features of this condition include short stature (dwarfism); a very short trunk and neck; abnormal curvature of the spine; barrel-shaped chest; shortened limbs; an abnormality of the hip joint; and problems with vision and hearing. Arthritis and decreased joint mobility often develop early in life. More than 175 cases have been reported in the scientific literature. This condition is caused by mutations in the COL2A1 gene and is inherited in an autosomal dominant pattern. Most cases result from new mutations in the gene and occur in people with no family history of the condition.[1]
Last updated: 1/11/2012

References

  1. Spondyloepiphyseal dysplasia congenita. Genetics Home Reference. July 2008; http://ghr.nlm.nih.gov/condition/spondyloepiphyseal-dysplasia-congenita. Accessed 5/11/2011.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Spondyloepiphyseal dysplasia congenita. 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

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • 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 Spondyloepiphyseal dysplasia congenita. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • SED congenita
  • SEDC
  • Spondyloepiphyseal dysplasia, congenital type
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.