Ehlers-Danlos Syndrome (EDS)

Ehlers-Danlos Syndrome (EDS) is a group of genetic disorders of the connective tissue. Ehlers-Danlos Syndrome is a constellation of many different disorders, all sharing to some degree a defect in a patient’s connective tissue that makes that tissue fragile and stretchy. This may result in complications ranging from increased bruising, loose joints, chronic pain, and some serious medical conditions. Chiari Malformation has been linked to EDS as some patients have both diagnoses, but the genetic connection remains elusive. EDS can exacerbate Chiari as sometimes it can cause instability at the junction of the skull and the neck.

What Causes Ehlers-Danlos Syndrome?
EDS is thought to be caused by a gene mutation that affects collagen, which gives structure and strength to connective tissue. Some of the genes associated with EDS provide instructions for making collagen itself, while other genes control how it works. Mutations in any of the genes that affect the production or use of collagen may lead to weakening of the connective tissue in the body’s skin, bones, blood vessels, and organs. Some types of EDS can be passed from parent to child (known as “heritable”), while others can result from a spontaneous gene mutation that occurs in early development.

A few of the recently discovered types of EDS are associated with genes that don’t seem to be related to collagen production at all, and we don’t yet know how their mutations end up producing the characteristic features of EDS. The most common types of Ehlers-Danlos Syndrome cause frequent joint dislocations and chronic musculoskeletal pain. Individuals also have fragile, extra-stretchy skin that bruises easily, as well as low muscle tone. Certain types of Ehlers-Danlos Syndrome affect the brain and spine. Many of the problems associated with EDS are progressive, meaning that they get worse over time.

Kyphoscoliosis EDS (kyphosis and scoliosis) is a form of Ehlers-Danlos Syndrome that is noted for severe, progressive curvature of the spine. It worsens over time and may affect breathing by restricting lung expansion.

The spondylodysplastic EDS type is associated with skeletal abnormalities such as abnormally curved (bowed) limbs and short stature.

Infants with arthrochalasia EDS have severe joint hypermobility and congenital hip dislocation, in addition to the characteristic fragile, loose skin and low muscle tone.

Find out more about spinal deformity.