Symptoms of EDS

Ehlers-Danlos syndrome (EDS) is the name given to a group of genetic conditions that cause defects in the connective tissues. Mutations in several different genes are known to cause different forms of EDS, although in some cases the genetic cause is unknown.

Based on the type of EDS and its severity, symptoms can vary substantially from patient to patient. The most frequently reported symptoms involve the joints and skin, but EDS also can affect the bones, heart, and various other organs.

Stretchy and fragile skin

Connective tissues helps skin to maintain its elasticity. In patients with EDS, the connective tissue is damaged, which makes the skin unusually stretchy, soft and velvety, and fragile. Some forms of EDS also cause hair to be unusually thin and sparse.

People with EDS often have skin that bruises easily and heals very slowly. Fragile skin may cause complications in the wound healing process, leaving patients with unusual scarring.

Hypermobile joints

The connective tissue in the joints is essential in maintaining their range of motion. Any damage to the connective tissue can loosen the joints, causing them to move past the normal range of motion, a condition referred to as hypermobility.

Hypermobile joints in EDS often are associated with joint pain, and they can increase the risk of dislocations. Pain in the bones and muscles also is possible.

Bone, muscle, skeletal problems

People with EDS may be at increased risk of osteoarthritis — the most common form of arthritis — or joint inflammation, which develops when the cartilage that usually cushions bones in the joints wears down. EDS also can increase the risk of bone health problems like osteopenia or low bone density.

Those with vascular EDS may show unusual facial features like a thin nose and lips, and small earlobes. These patients, as well as those with spondylodysplastic EDS, typically have short stature. Many patients develop an abnormal curvature of the spine (scoliosis, when it curves sideways, and/or kyphosis, when it is rounded forward).

Hypotonia, or low muscle tone, is also reported in patients.

Vision, hearing, and dental symptoms

Different types of EDS can cause problems with the eyes, such as abnormally thin corneas (the outermost part of the eye) that can impair vision. Hearing difficulties have also been reported in people with EDS.

EDS can raise a risk of dental problems, including gum disease that may lead to a loss of teeth.

Heart and organ problems

In some types of EDS, damage occurs in the heart and circulatory system, which can result in problems with the heart’s valves. Fragile blood vessels and organs increase the risk of aneurism or ruptures, which can cause serious and potentially life-threatening bleeding.

A hernia, when an organ bulges through an abnormal opening, are more likely in these patients. Skin and tissue fragility due to EDS also can increase the risk of complications during surgery and pregnancy.

Digestive symptoms, such as constipation, diarrhea, and gastroesophageal reflux or stomach acid flowing up into the esophagus, are also known to affect people with EDS.


Last updated: Dec. 30, 2021, by Marisa Wexler MS


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