Ehlers-Danlos syndrome

Injury	Disease	Nutrition	Poison

Symptoms	Surgery	Test	Special Topic

Overview

Symptoms

Treatment

Prevention

Ehlers-Danlos syndrome

Definition:

Ehlers-Danos syndrome is a group of inherited disorders characterized by excessive looseness (laxity) of the joints, hyperelastic skin that is fragile and bruises easily, and/or easily damaged blood vessels. The syndrome sometimes involves rupture of internal organs. There are six major types that are characterized by distinctive features.

Causes, incidence, and risk factors:

Ehlers-Danlos syndrome (EDS) can occur in different forms -- involving blood vessels, skin, and/or joints -- with a variety of different genetic defects as their cause. A variety of genetic mutations cause abnormality in collagen. Collagen provides structure and strength to connective tissue in skin, bone, blood vessels, and internal organs.

Different forms of EDS have different modes of inheritance. Family history is a risk factor in some cases.

Incidence is 1 in 400,000 in the USA.

Review Date: 12/21/2004
Reviewed By: Celeste Krauss, M.D., Board Certified Clinical Genetics, Clinical Cytogenetics and Pediatrics. Founding Fellow, American College of Medical Genetics. Review provided by VeriMed Healthcare Network.

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