Signs and symptoms of the most common form of Ehlers-Danlos syndrome include:

  • Overly flexible joints. Because the connective tissue that holds joints together is looser, your joints can move far past the normal range of motion. Small joints are affected more than large joints. You might also be able to touch the tip of your nose with your tongue.
  • Stretchy skin. Weakened connective tissue allows your skin to stretch much more than usual. You may be able to pull a pinch of skin up away from your flesh, but it will snap right back into place when you let go. Your skin might also feel exceptionally soft and velvety.
  • Fragile skin. Damaged skin often doesn't heal well. For example, the stitches used to close a wound often will tear out and leave a gaping scar. These scars may look thin and crinkly.
  • Fatty lumps at pressure points. These small, harmless growths can occur around the knees or elbows and may show up on X-rays.

Symptom severity can vary from person to person. Some people with Ehlers-Danlos syndrome will have overly flexible joints but few or none of the skin symptoms.

Vascular Ehlers-Danlos syndrome

People who have the vascular subtype of Ehlers-Danlos syndrome often share distinctive facial features of a thin nose, thin upper lip, small earlobes and prominent eyes. They also have thin, translucent skin that bruises very easily. In fair-skinned people, the underlying blood vessels are very visible through the skin.

One of the most severe forms of the disorder, vascular Ehlers-Danlos syndrome can weaken your heart's largest artery (aorta), as well as the arteries to your kidneys and spleen. A rupture of any of these blood vessels can be fatal. The vascular subtype also can weaken the walls of the uterus or large intestines — which may also rupture.

Sep. 20, 2012

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