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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 (EDS) hypermobility type is an inherited connective tissue disorder that is caused by defects in a protein called collagen. It is generally considered the least severe form of Ehlers-Danlos syndrome, although significant complications can occur. Common symptoms include joint hypermobility affecting both large (elbows, knees) and small (fingers, toes) joints; soft, smooth skin that may be slightly elastic (stretchy) and bruises easily; and chronic musculoskeletal (muscles and bones) pain. Although EDS hypermobility type is thought to be a genetic condition, the exact underlying cause is unknown in most cases. A small percentage of people with this condition have a change (mutation) in the TNXB gene. Most cases of EDS hypermobility type are inherited in an autosomal dominant manner. Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms.[1][2][3]
Last updated: 5/26/2015

References

  1. Levy HP. Ehlers-Danlos Syndrome, Hypermobility Type. GeneReviews. September 13, 2012; http://www.ncbi.nlm.nih.gov/books/NBK1279/.
  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. Susan P Pauker, MD, FACMG; Joan Stoler, MD. Overview of the management of Ehlers-Danlos syndromes. UpToDate. March 2014; Accessed 5/22/2015.
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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.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
    Ehlers-Danlos Syndrome
    Genetics of Ehlers-Danlos Syndrome
  • 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.