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Causes
By Mayo Clinic staff
The types of Ehlers-Danlos syndrome are caused by a variety of genetic alterations (mutations), passed on from parent to child, that disrupt the normal production of collagen. Collagen is a fibrous protein that gives strength and elasticity to connective tissues — skin, tendons, ligaments, cartilage, and organ and blood vessel walls.
These genetic mutations alter normal enzyme activity, leaving connective tissues weak and unstable.
Variety of inheritance patterns
Most EDS types are passed along in an inheritance pattern called autosomal dominant. This means you need only one copy of the disease-causing mutation, inherited from either parent, to develop signs and symptoms of the disease. If you inherit the mutation, each of your children will have a 50 percent chance of inheriting the mutation from you.
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- Whitelaw SE. Ehlers-Danlos syndrome, classical type: Case management. Dermatology Nursing. 2004;16:433.
- Sheon RP. Clinical manifestations and treatment of the hypermobility syndrome. http://www.uptodate.com/home/index.html. Accessed Jan. 27, 2010.
- Tong I. Ehlers-Danlos syndrome. In: Ferri FF. Ferri's Clinical Advisor 2010. Philadelphia, Pa: Mosby Elsevier; 2009. http://www.mdconsult.com/das/book/body/188281291-3/965853179/2088/208.html#4-u1.0-B978-0-323-05609-0..00014-9--sc0025_4217. Accessed Feb. 10, 2010.
- Volkov N, et al. Ehlers-Danlos syndrome: Insights on obstetric aspects. Obstetrical & Gynecological Survey. 2006;62:51.
- Voermans NC, et al. Neuromuscular involvement in various types of Ehlers-Danlos syndrome. Annals of Neurology. 2009;65:687.
- Krakow D. Heritable diseases of connective tissue. In: Firestein GS, et al. Kelley's Textbook of Rheumatology. 8th ed. Philadelphia, Pa.: W.B. Saunders; 2008. http://www.mdconsult.com/das/book/body/188281291-3/965853179/1807/728.html. Accessed March 10, 2010
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