Ehlers-Danlos syndrome (EDS) is a rare tissue disorder that has six specific types. EDS affects a person’s connective tissue, which separates, connects and supports different organs in the body. People with EDS usually cannot make enough normal collagen, a connective tissue protein.
Ehlers-Danlos syndrome type V (EDS V, formerly known as X-linked EDS) is very rare form of EDS that has only been seen in 2 families so far. Symptoms include soft, velvety, and abnormally stretchy (hyperextensible) skin, joints with a slightly greater than normal range of motion (minor joint hyperlaxity), and abnormal scarring resulting in wide “cigarette paper” (atrophic) scars. Other symptoms include fleshy, “heaped-up” lesions associated with scars over pressure points like the elbows and knees (molluscoid pseudotumors), and small, hard, cyst-like growths that move freely under the skin that sits on top of the bony parts of the legs and arms (subcutaneous spheroids). Hernias and short stature can be signs of EDS V as well. Serious cardiac complications have also been reported, including congenital heart disease and “floppy” mitral valves, which affects blood flow between the chambers of the heart.
There is no cure for EDS V; it is a life-long condition that requires close monitoring. Management includes physical/ occupational therapy.
EDS V is passed through families in an X-linked recessive manner, meaning that males need to inherit only one copy of the changed gene on the X chromosome and females need to inherit two copies of the changed gene (one on each X chromosome) in order to develop the disorder. The exact genetic cause for EDS V is not known.
If you or your child has been diagnosed with EDS V, talk to your doctor about the most current treatment options. A genetic counselor can be helpful to discuss inheritance and risks to other family members. Support groups are also available for more resources and information.