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Diseases

Genetic and Rare Diseases Information Center (GARD)

Ehlers-Danlos syndrome, arthrochalasia type


Other Names for this Disease
  • Arthrochalasis multiplex congenita
  • EDS VII
  • EDS7A (formerly)
  • Ehlers-Danlos syndrome type 7
  • Ehlers-Danlos syndrome type 7A (formerly)
Related Diseases
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Tests & Diagnosis

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How is Ehlers-Danlos syndrome, arthrochalasia type diagnosed?

A diagnosis of Ehlers-Danlos syndrome (EDS), arthrochalasia type is typically based on the presence of characteristic signs and symptoms. Genetic testing for a change (mutation) in COL1A1 or COL1A2 can then be ordered to confirm the diagnosis. [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. People with EDS, arthrochalasia type have abnormalities in type I collagen.[1][3]
Last updated: 6/2/2015

References
  1. Defendi GL. Genetics of Ehlers-Danlos Syndrome. Medscape Reference. October 15, 2013; http://emedicine.medscape.com/article/943567-overview.
  2. Susan P Pauker, MD, FACMG; Joan Stoler, MD. Clinical manifestations and diagnosis of Ehlers-Danlos syndromes. UpToDate. December 2014; Accessed 5/21/2015.
  3. Klaassens M1, Reinstein E, Hilhorst-Hofstee Y, Schrander JJ, Malfait F, Staal H, ten Have LC, Blaauw J, Roggeveen HC, Krakow D, De Paepe A, van Steensel MA, Pals G, Graham JM Jr, Schrander-Stumpel CT. Ehlers-Danlos arthrochalasia type (VIIA-B)--expanding the phenotype: from prenatal life through adulthood. Clin Genet. August 2012; 82(2):121-130.


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
  • Arthrochalasis multiplex congenita
  • EDS VII
  • EDS7A (formerly)
  • Ehlers-Danlos syndrome type 7
  • Ehlers-Danlos syndrome type 7A (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.