Ehlers-Danlos syndrome, dermatosparaxis type
Other Names for this Disease
- Ehlers-Danlos syndrome type 7C (formerly)
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connective tissue disorder that is caused by defects in a protein called collagen. Common symptoms include soft, doughy skin that is extremely fragile; saggy, redundant skin, especially on the face; hernias; and mild to severe joint hypermobility. EDS, dermatosparaxis type is caused by changes (mutations) in the ADAMTS2 gene and is inherited in an autosomal recessive manner. Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms.Ehlers-Danlos syndrome (EDS), dermatosparaxis type is an inherited
Last updated: 6/3/2015
- 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.
- Solomons J1, Coucke P, Symoens S, Cohen MC, Pope FM, Wagner BE, Sobey G, Black R, Cilliers D. Dermatosparaxis (Ehlers-Danlos type VIIC): prenatal diagnosis following a previous pregnancy with unexpected skull fractures at delivery. Am J Med Genet A. May 2013; 161A(5):1122-1125.
- 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.
- Defendi GL. Genetics of Ehlers-Danlos Syndrome. Medscape Reference. August, 2015; http://emedicine.medscape.com/article/943567-overview.
- Susan P Pauker, MD, FACMG; Joan Stoler, MD. Overview of the management of Ehlers-Danlos syndromes. UpToDate. March 2014; Accessed 5/22/2015.
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Genetics of Ehlers-Danlos syndrome
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