Ehlers-Danlos Syndromes

Ehlers-Danlos Syndromes are a group of genetic connective tissue disorders that affect the way collagen is produced or used in the body. Collagen is a protein that provides structure and support to connective tissues, including skin, muscles, ligaments, tendons, and bones. People with EDS experience weakened connective tissues as a result of collagen abnormalities. Connective tissues are everywhere in the body. This means EDS is complex and typically affects multiple body systems at once.

There are currently 13 recognized subtypes of EDS. They are classified based on clinical features, genes affected, and pattern of inheritance.

Hypermobile EDS (hEDS) is the most common subtype, with symptoms often including joint hypermobility, chronic pain, and fragile, velvety skin that bruises easily. People with hEDS can be prone to subluxations and dislocations that occur spontaneously or on minimal impact. They can also have related conditions, including dysautonomia/POTS, Mast Cell Activation Syndrome (MCAS), gastrointestinal dysmotility, and chronic fatigue. The Norris Lab's recent global study found that hEDS patients surveyed had an average of 24 co-occurring conditions.

Hypermobile EDS is considered a genetic condition. However, scientists are still in the process of identifying genes that impact the condition; at this time, there is no reliable genetic testing available for hEDS. Instead, the diagnostic process relies on clinical verification.

Hands with finger splints for hypermobile fingers

Custom ring splints created by OT Donna VanHelene offer support for hypermobile fingers

Vascular EDS (VEDS) is a rare, serious connective tissue disorder. “Vascular” refers to the body’s system of blood vessels. People with VEDS have fragile arteries (blood vessels) and internal organs, putting them at high risk of severe bleeding, organ rupture, and other life-threatening complications.

VEDS is caused by mutations (changes) in the gene that tells the body how to make collagen III, a protein that provides strength to blood vessels, the bowel, uterus, and other hollow organs. In people with VEDS, these genetic changes have serious consequences: their bodies do not produce enough collagen III, or the collagen III they make is faulty and does not function properly. When collagen III cannot do its job, blood vessels and other organs can become severely fragile.

Learn more about Vascular EDS and available resourcesat the VEDS Movement.

Learn About 12 Rare EDS Subtypes

Arthrochalasia EDS

GENES:

COL1A1, COL1A2

INHERITANCE:

Autosomal dominant: one pathogenic copy of the changed gene is enough to cause the condition.

Brittle Cornea Syndrome (BCS)

GENES:

ZNF469, PRDM5

INHERITANCE:

Autosomal recessive: a person must inherit two changed copies of the gene. These genes affect the connective tissue that supports the eyes.

Cardiac-Valvular EDS (CVEDS)

GENES:

COL1A2

INHERITANCE:

Autosomal recessive: a person must inherit two changed copies of the gene.

Classical EDS

GENES:

COL5A1, COL5A2 (rarely COL1A1)

INHERITANCE:

Autosomal dominant: a change in one pathogenic copy of the gene is enough to cause the condition.

Classical-like EDS (clEDS)

GENES:

TNXB (Type I) or AEBP1 (Type II)

INHERITANCE:

Autosomal recessive: a person must inherit two changed copies of the gene.

Type I:

Differences in the shape or positioning of hands and feet, including curved fingers/toes and changes in foot arch and alignment
Muscle weakness
Axonal polyneuropathy (a condition affecting many peripheral nerves at once, causing numbness, tingling, and weakness, usually beginning in the hands and feet)
Gastrointestinal fragility (prone to tears) and vascular fragility (blood vessels weaker than usual and more prone to bruising, bleeding, and injury)
Purpura (purple or red spots and patches that appear when small blood vessels leak under the skin)
Edema (swelling from fluid buildup in body tissues, often noticed in ankles, feet, and legs

Type II:

Cardiovascular disease (conditions affecting the heart and blood vessels)
Hair loss
Reduced bone density
GI issues

Dermatosparaxis EDS

GENES:

ADAMTS2

INHERITANCE:

Autosomal recessive: a person must inherit two changed copies of the gene.

Kyphoscoliotic EDS (kEDS)

GENES:

PLOD1, FKBP14

INHERITANCE:

Autosomal recessive: a person must inherit two changed copies of the gene.

Foot-shape differences such as club foot (the foot is turned inward)
Atrophic scars (wide, sunken scars from poor healing)
Arterial aneurysms– Bulges that form in the walls of arteries
Tall, slender build with long limbs, fingers, and toes relative to the body
Lower bone density than usual
Hearing loss (FKBP14-kEDS)

Fragile, thin corneas (the clear front part of the eye)
Changes in the shape of the cornea that affect vision
Eyes that look slightly blue-tinted

Musculocontractural EDS (MC-EDS)

GENES:

CHST14, DSE

INHERITANCE:

Autosomal recessive: a person must inherit two changed copies of the gene.

Myopathic EDS (mEDS)

GENES:

COL12A1

INHERITANCE:

Can run in families (autosomal dominant) or need two changed copies of the gene (autosomal recessive).

Periodontal EDS (pEDS)

GENES:

C1R, C1S

INHERITANCE:

Autosomal dominant: one pathogenic copy of the changed gene is enough to cause the condition.

Spondylodysplastic EDS (spEDS)

GENES:

B4GALT7, B3GALT6, SLC39A13

INHERITANCE:

Autosomal recessive: a person must inherit two changed copies of the gene.

Vascular EDS (VEDS)

GENES:

COL3A1 (rarely COL1A1)

INHERITANCE:

Autosomal recessive: a person must inherit two changed copies of the gene.

Arterial aneurysm (abnormal bulge in weakened section of an artery wall at risk of tearing or bursting), arterial dissection (a tear between layers of the wall), and arterial rupture (a break through the artery wall), often before age 40
Family history of VEDS or sudden death to to arterial dissection or rupture
Fragile hollow organs (bowels and uterus) at risk of rupturing
Gastrointestinal rupture - a tear In the wall of the digestive tract, often the large bowel
Uterine rupture during the third trimester of pregnancy

Arteriovenous carotid cavernous sinus fistula – a sudden engorgement and redness of the eye
Thin, often see-through skin with visible veins, easy bruising
Organ prolapse, (when an organ slips downward from its usual position due to weakened connective tissue); prolapse can occur with bowel, bladder, uterus or rectum
Acrogeria (Premature aging of skin on hands and feet)
Joint hypermobility specifically in fingers and toes, rather than generalized hypermobility seen in many other subtypes
Distinctive facial features in some people
Varicose veins that develop at a younger age than usual

How is EDS Diagnosed?

Doctors who specialize in connective tissue disorders diagnose EDS based on a combination of physical exam, co-occurring conditions, family history, and genetic testing. During a physical exam, the doctor will look for signs and symptoms of EDS, including joint hypermobility, stretchy skin, and easy bruising. They will ask questions about your family medical history to determine if your relatives have signs of a connective tissue disorder or related conditions. They will recommend genetic testing if they suspect you have one of the 12 subtypes of EDS with a recognized genetic marker. If the doctor suspects you have hypermobile Ehlers-Danlos Syndrome, they may not recommend genetic testing, since there is currently no genetic test available.

Are you or a loved one inquiring about an EDS diagnosis?

Seeking Diagnosis

What treatment is available for EDS?

Finding the right treatment plan for you can have a profound impact on your quality of life. More information for EDS treatment coming soon!

Pain Management

Medications, Supplements, Laser, Accupuncture, Pain relief devices

Physical Therapy

Paced exercise focused on building stability, not flexibility; gradual increase to avoid flare-ups

Lifestyle Changes

Ergonomic setup for work, sleep, travel; disability accomodations, mobility aids, pacing

Surgery

Surgical intervention with specialists familiar with EDS/CTDS

Are you or a loved one looking to build a comprehensive treatment plan to manage daily living with EDS?

Learn More

Young scientists with EDS are leading research to better understand Ehlers-Danlos Syndromes

The CTC is honored to have scientists Dr. Cortney Gensemer, Izzy Kornblau MS, CGC, and Jeevan Mann (MD-PhD candidate) serving as members of our Medical Advisory Board.

MIND 2025: Living the Science as an EDS Patient

15:52

The Next Generation of EDS Experts with Jeevan Mann and Delaney Kenney (Ep 122)

01:09:26

How Research is Changing the Future for Chronic Illness Patients (ft. Cortney Gensemer)

01:20:01

More Resources

Please note, the resources below are primarily focused on hypermobile Ehlers-Danlos Syndrome. More resources for the rare subtypes coming soon! If you know of an initiative or are leading a project that centers rare subtypes of EDS, please let us know.

Movie poster for 'Complicated' featuring a mother and child.

WATCH

Film: COMPLICATED

The film sheds light on the struggles of children/young adults living with hEDS and how the medical system continues to fail those with complex, mysterious conditions

Book cover 'Disjointed' by Diana Jovin about Ehlers-Danlos.

READ

Book: Disjointed

A guide to navigating hEDS, HSD & co-occurring conditions like MCAS and Dysautonomia

The Bendy Bodies Podcast and Hypermobility Happy Hour logos

LISTEN

Podcasts

Two podcasts that dive into topics impacting people with hypermobile conditions

Sources

Chopra, P., Tinkle, B., Hamonet, C., Brock, I., Gompel, A., Bulbena, A., & Francomano, C. (2017). Pain management in the Ehlers-Danlos syndromes. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 175(1), 212–219. https://doi.org/10.1002/ajmg.c.31554 Collagen Advocacy Network. (n.d.). Types of Ehlers-Danlos syndrome. Retrieved August 2, 2026, from https://collagenadvocacynetwork.org/types-of-eds/ Engelbert, R. H., Juul-Kristensen, B., Pacey, V., de Wandele, I., Smeenk, S., Woinarosky, N., & Simmonds, J. V. (2017). The evidence-based rationale for physical therapy treatment of children, adolescents, and adults diagnosed with joint hypermobility syndrome/hypermobile Ehlers-Danlos syndrome. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 175(1), 158–167. https://doi.org/10.1002/ajmg.c.31545 Ghibellini, G., Brancati, F., & Castori, M. (2023). Multidisciplinary chronic pain management strategies in patients with Ehlers-Danlos syndromes. Pain Medicine. https://pubmed.ncbi.nlm.nih.gov/36305215/ Jovin, D. (Ed.). (2020). Disjointed: Navigating the diagnosis and management of hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorder. Hidden Stripes Publications, Inc. Malfait, F., Francomano, C., Byers, P., Belmont, J., Berglund, B., Black, J., Bloom, L., Bowen, J. M., Brady, A. F., Burrows, N. P., Castori, M., Cohen, H., Colombi, M., Demirdas, S., De Backer, J., De Paepe, A., Fournel-Gigleux, S., Frank, M., Ghali, N., … Tinkle, B. (2017). The 2017 international classification of the Ehlers–Danlos syndromes. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 175(1), 8–26. https://doi.org/10.1002/ajmg.c.31552 Ritelli, M., Cinquina, V., Venturini, M., Colombi, M., & Chiarelli, N. (2024). Looking back and beyond the 2017 diagnostic criteria for hypermobile Ehlers-Danlos syndrome: A retrospective cross-sectional study from an Italian reference center. American Journal of Medical Genetics Part A, 194(1), 174–194. https://doi.org/10.1002/ajmg.a.63426 The VEDS Movement. (2023, January 20). What is Vascular Ehlers-Danlos Syndrome? A Division of the Marfan Foundation. Retrieved August 2, 2026, from https://thevedsmovement.org/veds/what-is-veds/

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