Ehlers-Danlos syndrome, dermatosparaxis type
Other Names for this Disease
- Ehlers-Danlos syndrome type 7C (formerly)
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Tests & Diagnosis
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.
Last updated: 6/3/2015
- 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.
- 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.
- 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.