Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Ehlers-Danlos syndrome, hypermobility type


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.

Your Question

What causes Ehlers-Danlos syndrome hypermobility type?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What causes Ehlers-Danlos syndrome, hypermobility type?

Although Ehlers-Danlos syndrome (EDS), hypermobility type is thought to be a genetic condition, the exact underlying cause is unknown in most cases.[1]

A small percentage of people with this condition have a change (mutation) in the TNXB gene. In these cases, elastic skin, easy bruising and other hematologic (blood) manifestations are generally not observed. Mutations in the TNXB gene reduce levels of a protein called tenascin-X in the body. Researchers believe that this disturbs the way that collagen is deposited and disrupts the network of elastic fibers in joint ligaments and tendons.[1][2]
Last updated: 5/25/2015

References
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.