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Diseases

Genetic and Rare Diseases Information Center (GARD)

Ehlers-Danlos syndrome, hypermobility type


Other Names for this Disease
  • EDS3 (formerly)
  • Ehlers-Danlos syndrome type 3 (formerly)
Related Diseases
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Tests & Diagnosis

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How is Ehlers-Danlos syndrome, hypermobility type diagnosed?

Ehlers-Danlos syndrome (EDS), hypermobility type is diagnosed based on the presence of characteristic signs and symptoms. Specifically, the following features must be present to establish a diagnosis:[1]
  • Joint hypermobility
  • Soft skin with normal or only slightly increased extensibility
  • The absence of features suggestive of other forms of EDS (such as fragile skin, recurrent hernias, etc)
Unlike other forms of EDS, there are no specific tests (i.e. collagen typing or genetic testing) available to confirm a diagnosis of EDS, hypermobility type. Tenascin X genetic testing is available outside of the United States, but the frequency of this abnormality in patients with hypermobility EDS is not known.[1][2]
Last updated: 3/20/2016

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. February 22, 2016; http://www.uptodate.com/contents/clinical-manifestations-and-diagnosis-of-ehlers-danlos-syndromes.


Other Names for this Disease
  • EDS3 (formerly)
  • Ehlers-Danlos syndrome type 3 (formerly)
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.