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Ehlers-Danlos syndrome
Definition:
An inherited disorder characterized by excessive looseness (laxity) of the joints, hyperelastic skin that is fragile and bruises easily, easily damaged blood vessels and rarely, rupture on internal organs.

Causes, incidence, and risk factors:

Ehlers-Danlos syndrome involves abnormal formation of connective tissue. This condition, occurs in different forms, most of which result from defects in different genes. Symptoms range from mild to severe.
Symptoms:
  • Joint dislocation or subluxation, including congenital
  • Increased joint mobility, joints popping, early arthritis
  • Double-jointedness, flat feet
  • Easily damaged, bruised and stretchy skin
  • Easy scarring and poor wound healing
  • Premature rupture of membranes or births
  • Very stretchy skin
  • Visual difficulties
  • Peg teeth
Signs and tests:

Examination by the health care provider may show:

  • Excess joint laxity and joint hypermobility
  • Soft, thin or hyperextensible skin
  • Mitral valve prolapse
  • Periodontitis
  • Occipital exostoses (growths on the back of the head)
  • Signs of platelet aggregation failure (platelets do not "clump together" properly)
  • Rupture of intestines, uterus, lungs or eyeball
  • Deformed cornea

Tests:
Treatment:

There is no specific treatment for Ehlers-Danlos syndrome, and individual problems must be evaluated and cared for appropriately.
Expectations (prognosis):

People with Ehlers-Danlos generally have a normal life span. Intelligence is normal. The rare person with vascular type of Ehlers-Danlos is at significantly increased risk for rupture of a major organ or blood vessel and therefore of sudden death.
Complications:
  • Failure of surgical wounds to close or stitches tear out
  • Early onset arthritis
  • Rupture of major vessels, including a ruptured aortic aneurysm
  • Rupture of a hollow organ such as uterus, lung or bowel
  • Rupture of the eyeball
  • Premature rupture of membranes during pregnancy
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 on having a child.

Call for an appointment with your health care provider if you or your child have symptoms suggesting 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.
Review Date: 6/9/2001
Reviewed By: David G. Brooks, M.D., Ph.D., Division of Medical Genetics, University of Pennsylvania Medical Center, Philadelphia, PA. Review provided by VeriMed Healthcare Network.
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