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Diseases

Genetic and Rare Diseases Information Center (GARD)

Ehlers-Danlos syndrome, classic type


Other Names for this Disease
  • Classic Ehlers-Danlos syndrome
  • EDS, classic type
  • Ehlers-Danlos syndrome type 1 (formerly)
  • Ehlers-Danlos syndrome type 2 (formerly)
Related Diseases
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Tests & Diagnosis

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How is Ehlers-Danlos syndrome, classic type diagnosed?

A diagnosis of Ehlers-Danlos syndrome (EDS), classic type is typically based on the presence of characteristic signs and symptoms. Genetic testing for a change (mutation) in the COL5A1 gene or the COL5A2 gene can then be ordered to confirm the diagnosis in some cases.[1][2]

Collagen typing performed on a skin biopsy may be recommended if genetic testing is inconclusive. Collagen is a tough, fiber-like protein that makes up about a third of body protein. It is part of the structure of tendons, bones, and connective tissues. Although this test is generally not helpful in confirming a diagnosis of EDS, classic type, it can be used to rule out some of the other forms of EDS.[2]
Last updated: 5/31/2015

References
  1. Susan P Pauker, MD, FACMG; Joan Stoler, MD. Clinical manifestations and diagnosis of Ehlers-Danlos syndromes. UpToDate. December 2014; Accessed 5/21/2015.
  2. Fransiska Malfait, MD, PhD, Richard Wenstrup, MD, and Anne De Paepe, MD, PhD. Ehlers-Danlos Syndrome, Classic Type. GeneReviews. August 2011; http://www.ncbi.nlm.nih.gov/books/NBK1244/.


Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Other Names for this Disease
  • Classic Ehlers-Danlos syndrome
  • EDS, classic type
  • Ehlers-Danlos syndrome type 1 (formerly)
  • Ehlers-Danlos syndrome type 2 (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.