Kyphoscoliotic Ehlers-Danlos Syndrome (kEDS)

Kyphoscoliotic Ehlers-Danlos syndrome (kEDS) is one of the different subtypes of Ehlers-Danlos syndrome (EDS). We follow people with kEDS in our Connective Tissue Disorder Program here at Lurie Children’s.

EDS is a group of rare inherited (genetic) disorders that affect the connective tissue in the body. Connective tissue is made up of proteins that play important roles in our proper development, growth, and many other functions in the body. It provides support for our tissues and organs, transports and stores nutrients, and helps to repair damaged tissues.

Like other types of EDS, kEDS can affect different parts and systems in the body, including the heart and blood vessels (cardiovascular system), muscles, bones and joints (musculoskeletal system), lungs (pulmonary system) and skin.

What Causes kEDS?

Most cases of kEDS are caused by genetic variants (sometimes called mutations) in the PLOD1 gene that provides instructions for cells in the body to make an enzyme called PLOD1. PLOD1 is needed in the assembly of a connective tissue protein called collagen. Fewer cases of kEDS are caused by genetic changes in the FKBP14 gene that provides instructions for an enzyme called FKBP prolyl isomerase 14 (also known as FKBP22). This enzyme is thought to be involved in protein folding of collagen, which helps create its 3-dimensional shape. The shape of a protein affects how it works.

KEDS is an autosomal recessive condition. We have two copies of both our PLOD1 gene and our FKBP14 gene - one copy from each parent.  This means that to have kEDS, someone must either have a genetic variant in both copies of the PLOD1 gene or both copies of the FKBP14 gene.

What Are the Signs and Symptoms of kEDS?

The type of signs and symptoms seen in kEDS, as well as the severity, varies. Some of the signs and symptoms include:

  • Curvatures of the spine present at birth or within the first year of life
    • Front-to-back curvature of the spine (kyphosis)
    • Sideways curvature of the spine (scoliosis)
  • Loose joints (hypermobility)
  • Severe muscle weakness present at birth (hypotonia)
  • Cardiovascular abnormalities, such as
    • Heart valve that does not close properly (mitral valve prolapse)
    • Enlargement at the base of the largest artery in the body (aortic root dilatation)
  • Skin that is fragile and bruises easily
  • Poor wound healing

How Is kEDS Diagnosed?

A diagnosis of kEDS may be suspected when someone has some of the above signs and symptoms that characterize the disorder. To confirm the diagnosis, genetic testing is typically done on a genetic sample (such as blood) to look for genetic variants in the PLOD1 or FKBP14 gene that indicate kEDS.

How Is kEDS Treated?

There is no cure for kEDS, but it can be managed and monitored with a multi-disciplinary care team that consists of a primary care physician (PCP) and specialists. Specialists often include a surgeon with training to treat disorders of the skeletal system (orthopedic surgeon), heart doctor (cardiologist), eye doctor (ophthalmologist), geneticist, physical therapist and genetic counselor. It is important to establish an emergency care plan, monitor affected body systems regularly and continue regular care and screenings for good health.

Appointment/Referral Information

If your child or patient has not had genetic testing, please call the Division of Genetics, Genomics and Metabolism at 312.227.6120.

If your child or patient has already had genetic testing, please:

In addition to in-person visits, we now offer telemedicine visits via video or phone. Some appointments will still require you to be seen in-person, but your doctor and care team will let you know if a telemedicine appointment is available.

Please note, we see new patients ages 0 to 18 years old. If you are above 18 years old, please call Northwestern Medicine's Bluhm Cardiovascular Institute at 312.664.3278 to be seen by a cardiologist who specializes in adult care of connective tissue disorders. 

Resources and References

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