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.

• Joint dislocation or subluxation
• Joint pain
• Increased joint mobility, joints popping, early arthritis
• Double-jointedness, flat feet
• Easily damaged, bruised, and stretchy skin
• Very soft and velvety skin
• Easy scarring and poor wound healing
• Premature rupture of membranes at birth
• Visual difficulties

Examination by the health care provider may show:

• Excess joint laxity and joint hypermobility
• Soft, thin, or hyperextensible skin
• Mitral valve prolapse
• Periodontitis
• Signs of platelet aggregation failure (platelets do not clump together properly)
• Rupture of intestines, uterus, or eyeball (seen only in vascular EDS, which is rare)
• Deformed cornea

Tests:

• Collagen typing (performed on a skin biopsy sample)
• Collagen gene mutation testing
• Lysyl hydroxylase or oxidase activity
• Echocardiogram (heart ultrasound)

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.

Ehlers-Danlos National Foundation
6399 Wilshire Blvd. Suite 200
Los Angeles, CA 90048
www.ednf.org

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.

• Failure of surgical wounds to close (or stitches tear out)
• Chronic joint pain
• Early-onset arthritis
• Rupture of major vessels, including a ruptured aortic aneurysm (only in vascular EDS)
• Rupture of a hollow organ such as uterus or bowel (only in vascular EDS)
• Rupture of the eyeball
• Premature rupture of membranes during pregnancy

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.

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.