Education

About Ehlers-Danlos Syndrome

Whether this is the first time you’ve heard of Ehlers-Danlos Syndrome, or you’ve been a part of the community for some time now, this page will provide a myriad of information and resources about the condition.

What Do You Need To Know
About Ehlers-Danlos Syndrome?

Ehlers-Danlos syndromes (EDS) are a group of rare genetic disorders that impact your connective tissues, which are the structures that support your skin, bones, blood vessels, and other organs. The problems arise with a protein called collagen, which is crucial for providing strength and flexibility to these connective tissues. There are 13 different types of EDS, and each has its own unique effects and specific signals that doctors look for when making a diagnosis.

The long-term health of a person with Ehlers-Danlos syndrome (EDS) can differ a lot based on their exact type of EDS and their lifestyle. Apart from physical health, the mental health impact of living with EDS is also significant. As EDS is a long-term health issue, it  can impact a person’s mental health due to the ongoing symptoms and limitations it might impose. Patients sometimes report that doctors don’t take them seriously when their symptoms are not visible or easy to measure.

Symptoms

The symptoms of Ehlers-Danlos syndromes (EDS) can vary greatly from person to person, even among those with the same type of EDS. We refer to this as a “spectrum” because it means the symptoms and their severity can range widely.

Commonly observed symptoms include:

  • Skin that is softer and stretches more than usual, this is called ‘hyperextensibility’.
  • Joints that can move beyond the normal range of movement, known as ‘hypermobility’.
  • Wounds that take a longer time to heal, and a tendency to bruise easily, indicating ’tissue fragility’.
  • Some individuals may experience problems with their blood vessels or heart

Causes

Ehlers-Danlos syndrome (EDS) is a condition that can be passed down through families, and this happens in one of two ways – dominant or recessive inheritance.

In “dominant” subtypes of EDS, a child has a 50% chance of getting the disorder if one parent has it. Think of it like flipping a coin. If one of your parents has the EDS gene, for every child they have, there’s a 50-50 chance that the child could also have the condition. Sometimes a completely new change in the gene can occur by chance (we call this de novo) . If this happens, a person can have EDS  even if their parents don’t have it.

In “recessive” subtypes of EDS, a child gets the disorder only if both parents pass on the changed gene. If both parents are carriers, each child has a 1 in 4 chance of having EDS. 

All types of EDS, except one called hEDS, have a known genetic cause. These can be passed down from parents to their children or can happen due to new changes in the genes. Some types like mEDS, cEDS, vEDS, aEDS, and pEDS are usually inherited from one parent – these are referred to as autosomal dominant. Other types are usually inherited from both parents, referred to as autosomal recessive. That’s why your doctors may ask for your family history or refer you for genetic counseling if they suspect you have EDS. 

Diagnosis

EDS is generally diagnosed by reviewing a person’s medical history and physical conditions. If a doctor suspects EDS, they may conduct certain examinations to see how extendable the skin and joints are. In some cases, they might also use specialized tests like imaging scans for a more detailed diagnosis.

The diagnosis of hypermobile EDS (hEDS) remains clinical; there is no genetic cause yet identified, so there is no genetic testing available for hEDS. However, there are genetic tests for some other types of EDS and similar conditions. If you’re interested in genetic testing, it’s important to talk to a genetic counselor first. They can help you understand what the tests can and can’t tell you.

SubtypeSymptomsGenetic Cause(s)Autosomal Type
Hypermobility type (hEDS)Features on this type can be managed effectively and usually represent a less severe form. They may include frequent joint dislocation and chronic pain.Believed to be related to certain genetic changes, but the exact cause isn’t known yet.Dominant
Classical type (cEDS)Skin that stretches easily, joint laxity, and weak blood vessels. Thin, discolored scars may also occur.Often caused by changes in the COL5A1 and COL5A2 genes which impact how our body produces a crucial protein for our tissuesDominant
Vascular type (vEDS)Identified at birth with conditions like foot abnormalities and hip dislocation. They may also have skin that appears prematurely aged and risk arterial or intestinal rupture.Caused by changes in the COL3A1 gene, affecting collagen that builds our blood vessel walls.Dominant
Periodontal type (pEDS)Similar symptoms to cEDS, but originates from different genes — skin that stretches easily, joint laxity, and weak blood vessels. Thin, discolored scars may also occur.Changes in the C1R and C1S genes occur leading to immune response issues which can impact dental healthDominant
Kyphoscoliotic type (kEDS)Includes dental issues and can result in premature tooth loss.Changes in the PLOD1 or FKBP14 genes, affecting crucial enzymes for connective tissues and collagen production. Recessive
Spondylodysplastic type (spEDS)Identified at birth with muscular weakness or spinal abnormalities.Changes in the SLC39A13, B4GALT6 or B4GALT7 genes affecting several aspects including tissue cohesion and stabilityRecessive
Brittle cornea syndrome (BCS)Affects the skeleton, primarily the spine and hands.Changes in either the ZNF469 or PRDM5 genes, affecting collagen production in ocular tissues.Recessive
Arthrochalasia type (aEDS)Affects the eyes significantly. People may suffer from corneal ruptures following minor injuriesChanges in the COL1A1 or COL1A2 genes, which affects collagen production causing joint issues.Dominant
Musculocontractural type (mcEDS)Increased risk of dislocating multiple major joints.Changes in the CHST14 or DSE genes affecting carbohydrate transformation and production of certain bodily substances.Recessive
Classical-like (clEDS)Developmental delays and muscular weakness, cranial structural defects, and eye problems.Changes in the TNXB gene, affecting the body’s fibers that provide tissue support.Recessive
Dermatosparaxis type (dEDS)Distinctive facial features, hernias, and bladder ruptures.Changes in the ADAMTS2 gene, affecting how collagen matures in the body.Recessive
Myopathic type (mEDS)Includes muscle hypotonia at birth and improper muscle functions, along with scoliosis and hearing impairment.Changes in the COL12A1 or FKBP14 genes, affecting the body’s collagen network.Dominant or Recessive
Cardiac valvular type (cvEDS)This rare subtype might have few EDS symptoms, but severe heart vessel defects.Changes in the COL1A2 gene, resulting in heart valve issues.Recessive

Related Conditions

Someone diagnosed with EDS may also be diagnosed with one or more of the conditions listed below:

Hypermobility Spectrum Disorders (HSD) represents conditions where the joints are more flexible than typical, similar to EDS, but in a milder form. While these overly flexible joints can cause discomfort, the pain is usually not intense enough to need treatment.

Marfan Syndrome (MFS): People with MFS are typically tall, slim, with long limbs, fingers, and toes. They can have overly flexible joints, spinal curvature, and increased risk of heart issues like in EDS. Other symptoms include short-sightedness,  lenses in the eye might not be in the right place, a narrow jaw, a high roof of the mouth (palate), and teeth that are crowded. Individuals may also present curved spine and a sunken or protruding chest shape

Loey-Dietz Syndrome: symptoms of Joint hypermobility, translucent skin and easy bruising, heart issues, and distinct facial appearance

Familial Aortic Aneurysm (FAA): Symptoms include mild EDS-like features and a higher chance of heart and blood issues.

Occipital Horn Syndrome (OHS) formerly known as EDS, type IX: overlapping symptoms include loose skin that tends to hang in folds, bladder abnormalities due to issues with connective tissue, and  hypermobile (over-flexible) joints, particularly in the fingers and toes. One unique feature of OHS is the development of hard, horn-like bony growths at the back of the skull. Some may have distinctive facial features and potentially mild intellectual disability. 

This is not a comprehensive list.

Living with Ehlers-Danlos Syndrome

“I started having symptoms that were easy for the doctors to miss during my first few years. Things like delays walking, lack of fine motor skills, more bruising, and slightly delayed physical development, on top of severe allergies. As far back as I can remember I was told pain was normal or in my head and to keep going. I started having migraines from the hypermobility in my neck at 8 years old. At 12 I started spraining/straining my back. At 13 I tore my Achilles tendon the first of three times. At 15 I had my first full dislocation of my right shoulder. Of course this all was all because I was clumsy according to everyone.”

– Dawn Michelle Shepley, diagnosed with EDS in her late 20s 

Dawn Talks About Her Diagnosis What Dawn Said 10 Years Later

Living with Ehlers-Danlos Syndrome

“I went 24 years from my first medical emergency as an infant until my diagnosis. No one thought, maybe this girl runs with the zebras not the horses.

Years of my life when I should have been enjoying teens and young adulthood were spent with medical gaslighting, unnecessary and dangerous surgeries, time consuming visits and management, and a lasting medical trauma and PTSD.”

– Mackenzie Abramson, diagnosed with EDS at 24

Read Mackenzie’s Story

Need More Resources or Have Questions?

See List of Groups That Can Help

The Global Advocacy Alliance is a global community of non-profit organizations and support groups who are committed to changing the way the world tackles rare diseases. This group of non-profit and rare disease support groups can provide resources and answer questions specific to Ehlers-Danlos syndromes or related conditions like the ones listed above.

Rare Disease Facts

RARE Diseases Impact More People Than
Cancer and AIDS Combined

1 in 10

People are Affected by Rare Disease

1 in 2

Rare Diseases Don’t Have a Foundation or Research Support Groups

1 of 2

Patients Diagnosed with a Rare Disease is a Child

3 of 10

Children with a Rare Disease Won’t Live to See Their 5th Birthday

400

Million People Suffer From a Rare Disease Globally

8 in 10

Rare Diseases are Genetic

6+ Years

The Average Time it Takes for Rare Patients to Receive an Accurate Diagnosis https://everylifefoundation.org/delayed-diagnosis-study/

95%

of Rare Diseases Lack an FDA Approved Treatment

10,000+

Distinct types of Rare and Genetic Diseases

Up to $517,000

The economic impact of a delayed diagnosis is up to $517,000 in avoidable costs per patient.

Celebrities with Ehlers-Danlos Syndrome

Interest in Ehlers-Danlos Syndrome (EDS) has increased as several well-known personalities have discussed their diagnosis publicly:

  • Selma Blair
  • Jameela Jamil
  • Yvie Oddly
  • Sia
  • Lena Dunham
  • Halsey

Images courtesy of IMDB

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