Ehlers-Danlos Syndrome (EDS)

What is Ehlers-Danlos syndrome?

Ehlers-Danlos syndrome (EDS) is a group of disorders that affect a person's connective tissue. Connective tissues are proteins, such as collagen, that provide elasticity and support to the joints, blood vessels and skin.

EDS occurs in about one out of every 5,000 babies born worldwide. It affects males and females from all racial and ethnic backgrounds.

What are the types of Ehlers-Danlos Syndrome?

There are six major types of EDS. All types affect the joints and most affect the skin.

  • hypermobility (the most common type)
  • classical
  • vascular (the most severe type)
  • kyphoscoliosis
  • arthrochalasis
  • dermatosparaxis (most rare type)

People with EDS may be prone to certain conditions including weak blood vessels, mitral valve prolapse, low bone density, scoliosis, inflammatory bowel disease, hearing loss, arthritis and joint sprains and dislocations.

What are the signs and symptoms of EDS?

The signs and symptoms of Ehlers-Danlos syndrome vary depending on the type of disorder, and can range from mild to life threatening. Some common symptoms may include:

  • hypermobility in the hands, fingers and toes
  • loose joints
  • flat feet
  • a high narrow palate with dental crowding
  • pale, smooth skin that bruises easily
  • skin that stretches easily
  • wounds that don't heal easily or wounds that scar in an abnormal pattern
  • muscle pain or joint pain
  • muscle weakness, especially when cold

Some children with EDS may also have:

  • delayed motor skills
  • large eyes, small chin, and thin nose and lips
  • small stature

What are the causes of Ehlers-Danlos Syndrome?

EDS is caused by at least one copy of an altered gene. In some types of the disorder, two copies of the gene are altered.

Sometimes the genetic mutation is inherited from a parent. In other cases, new mutations can occur spontaneously in children with no family history of the disorder.

How we care for EDS

Ehlers-Danlos syndrome is a complex condition, and your child will likely need care from a range of specialists. At Boston Children’s Hospital, your child’s care team may include clinicians from cardiology, ophthalmology, orthopedics and otolaryngology (ear, nose and throat). Each member of the team is experienced in treating kids with EDS.