Clinical manifestations and diagnosis of Ehlers-Danlos syndromes. Genetic and Rare Diseases Information Center (GARD). Genetic counseling can help you understand the inheritance pattern of the type of Ehlers-Danlos syndrome that affects you and the risks it poses for your children.
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If you have a personal or family history of Ehlers-Danlos syndrome and you're thinking about starting a family, you may benefit from talking to a genetic counselor - a health care professional trained to assess the risk of inherited disorders. Pregnancy can increase the risk of a rupture in the uterus. Some organs, such as the uterus and intestines, also may rupture. People who have vascular Ehlers-Danlos syndrome are at risk of often fatal ruptures of major blood vessels.
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Fragile skin may develop prominent scarring. For example, overly flexible joints can result in joint dislocations and early-onset arthritis. ComplicationsĬomplications depend on the types of signs and symptoms you have. If you have the most common form, hypermobile Ehlers-Danlos syndrome, there's a 50% chance that you'll pass on the gene to each of your children. Causesĭifferent types of Ehlers-Danlos syndrome are associated with a variety of genetic causes, some of which are inherited and passed on from parent to child. The vascular type can also weaken the walls of the uterus or large intestines - which also may rupture. A rupture of any of these larger blood vessels can be fatal. Vascular Ehlers-Danlos syndrome can weaken your heart's largest artery (aorta), as well as the arteries to other regions of your body. In fair-skinned people, the underlying blood vessels are very visible through the skin. They also have thin, translucent skin that bruises very easily. People who have vascular Ehlers-Danlos syndrome often share distinctive facial features of a thin nose, thin upper lip, small earlobes and prominent eyes. The most common type is called hypermobile Ehlers-Danlos syndrome. Symptom severity can vary from person to person and depends on the specific type of Ehlers-Danlos syndrome that you have. For example, the stitches used to close a wound often will tear out and leave a gaping scar. Your skin might also feel exceptionally soft and velvety. 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. Weakened connective tissue allows your skin to stretch much more than usual. Because the connective tissue that holds joints together is looser, your joints can move far past the normal range of motion. There are many different types of Ehlers-Danlos syndrome, but the most common signs and symptoms include:
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