Ehlers-danlos syndrome

Overview

What is Ehlers-Danlos syndrome?

Ehlers-Danlos syndrome (EDS) is a group of related, but distinct, genetic disorders. They affect connective tissue. Connective tissue is the material between the cells of the body that connects, supports, binds or separates other tissue or organs. It gives skin and blood vessels strength and elasticity. A structural protein called collagen is one of the major components in connective tissue. People with EDS have an unexpected change in one of the genes that is important in producing or processing collagen. Because of these gene changes, they do not produce or process collagen properly and their connective tissue does not develop in the right way. There are six major subtypes of EDS. They are related, but separate disorders. Symptoms that are common to all types include loose skin that stretches more than normal, but is also fragile and can tear or bruise easily. The skin also heals poorly and usually leaves distinctive scars. Loose joints that can be flexed or bent farther than other people can is also common. Joints in EDS are usually prone to popping out of place (dislocation) and chronic pain. Each subtype may have additional symptoms; some subtypes can have severe symptoms like hearts problems or the risk of blood vessels rupturing spontaneously. The severity and symptoms of EDS can be very different among affected people. This is true even among people with the same subtype or people in the same family. EDS is caused by a gene change (mutation) in one of several different genes.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/ehlers-danlos-syndrome-classic-type-4071/overview/58988 • DATE UPDATED: 2016-07-26

References

Ehlers-Danlos Syndrome. Genetics Home Reference website. Accessed July 10, 2016. https://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome#

Ehlers-Danlos Syndrome (The Basics). UpToDate, Inc. website. Accessed July 8, 2016.

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