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Contents of this page: | |
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.Causes, incidence, and risk factors
Ehlers-Danlos syndrome (EDS) can occur in different forms -- involving vessels, skin, and/or joints -- with a variety of different genetic defects as their cause.
Different forms of EDS have different modes of inheritance. Family history is a risk factor in some cases.
Symptoms
Signs and tests
Examination by the health care provider may show:
Tests:
Treatment
There is no specific cure for Ehlers-Danlos syndrome, so individual problems and symptoms must be evaluated and cared for appropriately. Frequently, physical therapy or evaluation by a physician specializing in rehabilitation medicine is needed.
Support Groups
Ehlers-Danlos National Foundation
6399 Wilshire Blvd. Suite 200
Los Angeles, CA 90048
www.ednf.org
Expectations (prognosis)
People with EDS generally have a normal life span. Intelligence is normal.
Patients with the rare vascular type of EDS are at significantly increased risk for rupture of a major organ or blood vessel. These patients therefore have a high risk of sudden death.
Complications
Calling your health care provider
Call for an appointment with your health care provider if you have a family history of Ehlers-Danlos syndrome and are planning to conceive a child.
Call for an appointment with your health care provider if you or your child have symptoms of Ehlers-Danlos syndrome.
Prevention
Genetic counseling is recommended for prospective parents with a family history of Ehlers-Danlos syndrome. Affected parents should be aware of the type of Ehlers-Danlos syndrome they have and its mode of inheritance. This may be determined through testing and evaluation suggested by your health care provider or genetic counselor.
Update Date: 2/5/2003 Updated by: Douglas R. Stewart, M.D., Division of Medical Genetics, Hospital of the University of Pennsylvania, Philadelphia, PA. Review provided by VeriMed Healthcare Network.
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Page last updated: 28 October 2004 |