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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Ehlers-Danlos syndrome, dermatosparaxis type


Other Names for this Disease
  • Dermatosparaxis
  • EDS VIIC
  • Ehlers-Danlos syndrome type 7C
  • Ehlers-Danlos syndrome type 7C (formerly)
  • Ehlers-Danlos syndrome, dermatosparaxis type
Related Diseases
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Tests & Diagnosis

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How is Ehlers-Danlos syndrome, dermatosparaxis type diagnosed?

A diagnosis of Ehlers-Danlos syndrome (EDS), dermatosparaxis type is typically based on the presence of characteristic signs and symptoms. Genetic testing for a change (mutation) in the ADAMTS2 gene and/or a skin biopsy can then be ordered to confirm the diagnosis.[1][2]
Last updated: 6/3/2015

References
  1. Malfait F1, De Coster P, Hausser I, van Essen AJ, Franck P, Colige A, Nusgens B, Martens L, De Paepe A. The natural history, including orofacial features of three patients with Ehlers-Danlos syndrome, dermatosparaxis type (EDS type VIIC). Am J Med Genet A. November 2004; 131(1):18-28.
  2. Susan P Pauker, MD, FACMG; Joan Stoler, MD. Clinical manifestations and diagnosis of Ehlers-Danlos syndromes. UpToDate. December 2014; Accessed 5/21/2015.


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
  • Dermatosparaxis
  • EDS VIIC
  • Ehlers-Danlos syndrome type 7C
  • Ehlers-Danlos syndrome type 7C (formerly)
  • Ehlers-Danlos syndrome, dermatosparaxis type
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.