Ehlers-Danlos Syndrome

Ehlers-Danlos syndrome (EDS) is a group of inherited disorders. These disorders affect the connective tissues. This type of tissue is found all over the body. There are at least six different varieties of EDS. They are classified by the type of tissue most affected and how it is inherited.

  • Causes

    EDS is caused by a problem in the genetic material. It mainly affects the genes that create connective tissue.

    Most types of EDS affect the production of collagen. Collagen is an important part of connective tissue. It gives the tissue strength and allows it to stretch.

  • Definition

    Ehlers-Danlos syndrome (EDS) is a group of inherited disorders. These disorders affect
    the connective tissues. This type of tissue is found all over the body. There are at least six different varieties of EDS. They are classified by the type of tissue most affected and how it is inherited.

  • Diagnosis

    The doctor will ask about your symptoms and medical history. A physical exam will be done. This is usually enough to diagnosis EDS in most people. When the diagnosis is uncertain, tests may include:

    • Skin biopsy—to look for abnormalities in the connective tissue
    • Detection of specific biochemical defects—available for certain types of EDS

  • Prevention

    There is no known way to prevent EDS after a person is born. If you have EDS or have a family history of the disorder, consider genetic counseling when deciding to have children. The counselor can talk to you about the risk of your child having EDS.

  • Risk Factors

    Having family members with EDS increases your chance of EDS.

  • Symptoms

    The symptoms of EDS can vary. Some may have mild symptoms. Other may have severe and life-changing symptoms.

    The most common symptoms of EDS include problems with the joints and skin. Joints are loose and unstable which can lead to:

    • Swelling
    • Sprains
    • Dislocations
    • Joint pain
    • Flat feet
    Kyphosis
    kyphosis Spine
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    Skin is soft, fragile, and can stretch far too easily. This can lead to problems such as:

    • Easy bruising
    • Minor injuries turning into gaping wounds
    • Slow and poor wound healing
    • Difficulty suturing skin because skin tends to tear
    • Skin scarring from wounds or stretching
    • Fleshy outgrowths on top of scars
    • Calcified nodules under the skin
    • Increased risk of surgical complications


    Other symptoms depend on the type of EDS you have. EDS can cause problems with:


    • Eyes, such as:

      • Nearsightedness
      • Epicanthic fold—fold of skin on either side of the nose may cover the inner corner of the eye, which is common in children with EDS
      • Fragile sclera—the white outer coat of the eyeball
      • Hole in the globe of the eye—rare
    • Lung—due to loss of normal elastic tissue
    • Bones and muscles—such as chronic pain

    • Blood vessels—weak tissue can lead to
      aortic aneurysms
      and rupture of blood vessels
    • Blood clotting—can lead to easy bruising and bleeding

    • Heart valves—such as
      mitral valve prolapse
    • Gums—bleeding and diseases

    • Gastrointestinal system, such as:

      • Hernias
      • Diverticulosis
      • Perforation or bleeding along the gastrointestinal tract
      Hiatal Hernia
      Hiatal Hernia
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    • Pregnancy, such as:

      • Premature birth
      • Early rupture of membranes
      • Bleeding during pregnancy and excessive bleeding during or after childbirth
      • Uterine rupture
      • Higher complications from procedures
    • Muscles—low muscle tone with delayed motor development

  • Treatment

    There is no known cure for EDS. Treatment may be needed to manage symptoms and or to try to prevent complications.