Ehlers-Danlos syndrome, vascular type
Other Names for this Disease
- Ehlers Danlos syndrome, ecchymotic type
- Ehlers Danlos syndrome, arterial type
- Ehlers Danlos syndrome, Sack-Barabas type
- EDS4 (formerly)
- Ehlers-Danlos syndrome type 4 (formerly)
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connective tissue disorder that is caused by defects in a protein called collagen. It is generally considered the most severe form of Ehlers-Danlos syndrome. Common symptoms include thin, translucent skin; easy bruising; characteristic facial appearance; and fragile arteries, muscles and internal organs. EDS, vascular type is caused by changes (mutations) in the COL3A1 gene and is inherited in an autosomal dominant manner. Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms.Ehlers-Danlos syndrome (EDS), vascular type is an inherited
Last updated: 5/29/2015
- 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.
- Melanie G Pepin, MS, CGC and Peter H Byers, MD. Ehlers-Danlos Syndrome Type IV. GeneReviews. May 2011; http://www.ncbi.nlm.nih.gov/books/NBK1494/.
- 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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- 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, vascular type. Click on the link to view a sample search on this topic.