Children's Hospital Colorado

Ehlers-Danlos Syndrome (EDS)

What is Ehlers-Danlos syndrome?

Ehlers-Danlos syndrome (EDS) is a group of disorders that causes abnormal flexibility or elasticity of the body's connective tissues, such as the skin, joints and blood vessels. There are 14 types of EDS, and all except one have a known specific genetic cause. This number will almost certainly increase over time as researchers discover new types. The most common type is hypermobile EDS or hEDS, which does not yet have a known genetic cause.

What causes Ehlers-Danlos syndrome in children?

All types of pediatric Ehlers-Danlos syndrome, except hypermobile EDS, are caused by known alterations in the genes that are responsible for the structure of connective tissue proteins. Researchers have not yet defined the genetic basis of hypermobile EDS. However, the pattern of inheritance is strong within families and seems to occur in an "autosomal dominant" fashion. This means that if a parent is affected by the hypermobile type, there is about a 50% chance that their children will also have it.

Who gets Ehlers-Danlos syndrome?

EDS is a genetic disorder, which means it is passed on from parents to their children. EDS occurs in females and males, but the severity of symptoms seems to be greater in females. For the most common type, hypermobile EDS, some symptoms may be present in childhood. However, symptoms typically increase in number and severity during and after puberty. Our team treats children of all ages and adults with EDS into their late 20s.

What are the signs and symptoms of Ehlers-Danlos syndrome?

Ehlers-Danlos syndrome symptoms vary according to the type of EDS your child has. They may include:

  • Very soft, stretchy and unusually fragile skin
  • Poor wound healing
  • Overly flexible, loose joints, which causes pain and dislocations

Many other symptoms (like intestinal problems, headaches, and multiple allergies) may also be present for some patients with EDS.

What tests are used to diagnose Ehlers-Danlos syndrome?

A clinical geneticist can diagnose EDS using gene panel testing that is available to diagnose 13 of the 14 types of EDS. An experienced geneticist can also clinically diagnose the hypermobile type. Our Genetics Department has a specialty clinic devoted to the diagnosis of EDS.

An echocardiogram (heart ultrasound) is necessary for most EDS patients. We may do other bloodwork to ensure your child is getting enough nutrition and confirm the presence or absence of a bleeding or autoimmune disorder if symptoms suggest your child may have these problems.

What to expect from Ehlers-Danlos syndrome genetic testing

If the genetic test for EDS shows abnormal test results, our genetic counselor will create a customized plan to manage your child's symptoms.

How is Ehlers-Danlos syndrome treated?

There is currently no cure for EDS. Treatment of EDS varies widely according to the different types of symptoms and the severity of those symptoms. Our multidisciplinary team provides a highly individualized approach to relieve symptoms, with the aim of helping patients achieve the most fulfilling life possible despite their EDS diagnosis.

Why choose us for the treatment of Ehlers-Danlos syndrome?

Currently, our EDS Program within the Special Care Clinic is the only dedicated, pediatric clinical program for care of EDS in the United States. We strive to be at the cutting edge of EDS research and to develop the best treatments for EDS.

Our multidisciplinary team includes pediatric specialists in gastroenterology, neurology, cardiology, allergy and immunology, chronic pain and physical therapy. For children who need additional specialized treatment, we also have pediatric experts in hematology, rheumatology, neurosurgery and orthopedics available.

Our team provides consultation to families and their primary care providers. We also coordinate appointment scheduling for patients who need to see multiple doctors and aim for same-day appointments when feasible. Our care team meets regularly to collaborate and review patient care plans and progress.

How do I schedule a visit?

If your child has been diagnosed with EDS, ask your child's primary care doctor for a referral to the Special Care Clinic at Children's Hospital Colorado. Your child's primary doctor can contact the Special Care Clinic by calling 720-777-6739.

If you suspect, but do not have a confirmed diagnosis of EDS from a geneticist, speak with your primary care doctor about your concerns and consider getting a referral to a geneticist for evaluation.