What Is Ehlers-Danlos Syndrome (EDS)?

Ehlers-Danlos Syndrome (EDS) refers to a group of disorders that affect the body’s connective tissue, including skin, tendons, ligaments and blood vessel walls. These connective tissues provide strength and elasticity to other parts of the body.

Children who have EDS typically have overly flexible joints. They sometimes also have fragile, stretchy skin. A more severe form of the disorder, known as vascular EDS, can cause ruptured blood vessel walls, intestines or other organs.

What Causes Ehlers-Danlos Syndrome?

Certain types of EDS are caused by abnormalities in the genes that produce the most important protein in our connective tissue. This protein, called collagen, gives strength and structure to connective tissues. Other forms of EDS come from abnormalities in genes that produce other proteins that work together with collagen.

A family history of the condition is also a risk factor for developing EDS.

What Are the Types of Ehlers-Danlos Syndrome?

There are six major types of EDS:

Hypermobility

The most common type of EDS. Hypermobility is when the joints move beyond the normal range for that joint.

Classical (Type I and II)

One of the most common types of EDS. Causes skin fragility, easy bruising, skin hyperelasticity, joint hypermobility and scarring.

Vascular (Type IV)

The most serious type of EDS, and extremely difficult to diagnose. Type 4 can cause blood vessels or organs to rupture. Children who have vascular EDS often have distinctive facial features, such as a thin nose, thin upper lip, small earlobes and prominent eyes.

Kyphoscoliosis (Type VI)

Causes the spine to curve severely or causes progressive scoliosis, as well as the other EDS symptoms.

Arthrochalasia (Type VII-A and B)

Very rare. Causes generalized joint hypermobility, frequent joint dislocations, skin hyperelasticity, easy bruising, tissue fragility, low muscle tone and low bone mineral density.

Dermatosparaxis (Type VII-C)

Also very rare. Causes severe skin fragility, easy bruising and sagging, doughy skin.

Ehlers-Danlos Syndrome Symptoms and Effects

The most common symptoms of EDS are:

  • Loose, overly flexible joints.
  • Hypermobility in the toes, hands and fingers.
  • Small, fragile blood vessels.
  • Abnormal scar formation.
  • Wounds that don’t heal easily.
  • Abnormally stretchy, fragile skin that bruises easily.
  • Hernias.
  • Early arthritis.
  • Flatfoot.
  • Muscle weakness and pain.
  • Joint pain.
  • Fatty lumps at pressure points (knees and elbows).
  • Heart valve problems.

Ehlers-Danlos Syndrome Diagnosis and Treatment

If your child has EDS, a specialist usually gives a diagnosis only after reviewing medical and family history and performing a physical exam. Experts might also perform a genetic test using a blood or skin sample to confirm the diagnosis.

Although there is no cure for EDS, Gillette Children’s Specialty Healthcare offers the following treatments, which can help manage your child’s symptoms and prevent further complications.

Medication

Medicines, such as ibuprofen or naproxen, can help control your child’s pain. For more severe joint and muscle pain, we occasionally prescribe stronger medicines. If your child has fragile blood vessels, we might recommend blood pressure medicine to keep blood pressure low.

Physical Therapy

Physical therapy can help strengthen the muscles around your child’s joints, stabilize the joints themselves, and prevent dislocations.

Surgery

It happens rarely, but if your child still experiences joint dislocations after trying conservative treatments, we might recommend surgery to repair the joint.

Integrated Care

If your child has EDS, Gillette experts will customize a treatment that fits your specific needs. To help manage related conditions, your child might also see some of our specialists in areas such as:

Our internationally recognized team of specialists works closely with kids and their families to minimize pain, prevent injury and stabilize joint function.