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Ehlers-Danlos syndrome hypermobility type

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Other Names for this Disease
  • Benign joint hypermobility syndrome
  • BJHS
  • EDS III
  • EDS3 (formerly)
  • Ehlers-Danlos syndrome type 3
Related Diseases
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

Ehlers-Danlos syndrome hypermobility type is a connective tissue disorder that affects the tissues that support the skin, bones, blood vessels, and other organs. It is generally considered the least severe type of Ehlers-Danlos syndrome; however significant complications can occur. Symptoms include soft velvety skin, hyperextensible skin, dislocations, degenerative joint disease, chronic pain, and easy bruising. It is inherited in an autosomal dominant manner but the underlying genetic abnormality is unknown and unmapped.

A small percentage of people with the diagnosis of hypermobility type of Ehlers-Danlos syndrome have mutations in the TNXB gene resulting in tenascin X deficiency which disrupts the normal organization of collagen fibrils and elastic fibers. These cases are inherited in an autosomal dominant manner and more rarely in an autosomal recessive pattern.[1][2][3]
Last updated: 1/19/2012

References

  1. Levy HP. Ehlers-Danlos Syndrome, Hypermobility Type. GeneReviews. September 13, 2012; http://www.ncbi.nlm.nih.gov/books/NBK1279/. Accessed 9/16/2014.
  2. Pauker SP & Stoler J. Clinical manifestations and diagnosis of Ehlers-Danlos syndromes. UpToDate. December 9, 2014; http://www.uptodate.com/contents/clinical-manifestations-and-diagnosis-of-ehlers-danlos-syndromes. Accessed 3/13/2015.
  3. TNXB. Genetics Home Reference. May, 2006; http://ghr.nlm.nih.gov/gene/TNXB. Accessed 4/23/2015.
Your Questions Answered
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Basic Information

  • Genetics Home Reference (GHR) contains information on Ehlers-Danlos syndrome hypermobility type. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • 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.
  • The National Institute of Arthritis and Musculoskeletal and Skin Diseases has a resource page, titled "What Are Heritable Disorders of Connective Tissue? Fast Facts: An Easy-to-Read Series of Publications for the Public." Click on the link to view the information page.
  • The University of Washington has developed a Web page on Ehler Danlos syndrome, hypermobility type. Click on University of Washington to view the information page.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
  • 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 Ehlers-Danlos syndrome hypermobility type. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Benign joint hypermobility syndrome
  • BJHS
  • EDS III
  • EDS3 (formerly)
  • Ehlers-Danlos syndrome type 3
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.