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.
- Genetics Home Reference (GHR) contains information on Ehlers-Danlos syndrome, dermatosparaxis type. This website is maintained by the National Library of Medicine.
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- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
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Genetics of Ehlers-Danlos syndrome
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- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Ehlers-Danlos syndrome, dermatosparaxis type. Click on the link to view a sample search on this topic.