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PubMed This is a summary of 97 peer-reviewed journal articles Updated
Medical Genetics · Ehlers-Danlos Syndrome

Validation & Orientation: What is Ehlers-Danlos Syndrome?

At a Glance

Ehlers-Danlos Syndrome (EDS) is a group of 13 hereditary connective tissue disorders caused by defective collagen. It is a multisystemic condition that affects joints, skin, and organs, causing a wide range of real, biological symptoms that require proactive management and specialized care.

If you have just received a diagnosis of Ehlers-Danlos Syndrome (EDS), you may be feeling a powerful wave of relief followed by a flood of new questions. For many, this diagnosis marks the end of a “diagnostic odyssey”—a long, frustrating journey through the medical system that lasts an average of 10 to 22 years [1][2][3]. During this time, it is common to have been told your symptoms were “just anxiety,” “all in your head,” or to have received 10 or more incorrect diagnoses [3][4]. Your symptoms are real, they have a biological cause, and you finally have a name for them.

What is EDS?

Ehlers-Danlos Syndrome is not just “being double-jointed.” It is a group of hereditary disorders that affect connective tissue, which is the “glue” that holds your body together [5]. Connective tissue is found everywhere: in your skin, joints, blood vessels, and internal organs [6].

The core issue in EDS is a defect in collagen or the extracellular matrix (ECM) [7]. Collagen is a protein that provides strength and structure to your tissues. In EDS, genetic mutations cause the body to produce collagen that is either insufficient or shaped incorrectly [7][8]. Think of it like building a house with rubber bands instead of steel bolts; the structure becomes too flexible and fragile [9].

Understanding the Subtypes

There are currently 13 distinct subtypes of EDS recognized by international classifications [10]. While each type has its own specific genetic “blueprint,” they all share the common theme of connective tissue fragility [11]. To learn more about the 6 most common subtypes, see The 6 Key Subtypes of EDS.

  1. Hypermobile EDS (hEDS): The most common type [12]. Interestingly, it is the only type where the specific gene mutation has not yet been identified, so diagnosis is based on a clinical checklist. For details, see Diagnosis and the 2017 hEDS Criteria [13][14].
  2. Classical EDS (cEDS): Known for extremely stretchy skin and fragile tissues that scar easily [15].
  3. Vascular EDS (vEDS): A rare but serious type that affects the blood vessels and internal organs [16].
  4. Other Types: The remaining 10 types (such as Kyphoscoliotic or Arthrochalasia) are very rare and often involve specific symptoms like severe spine curvature or eye issues [10][17].

Three Stabilizing Facts

As you begin this new chapter, keep these three facts close:

01

Symptoms & Multisystem Involvement in EDS

Learn about the multisystem symptoms of Ehlers-Danlos Syndrome (EDS). Discover how joint instability connects to POTS, MCAS, and digestive dysmotility.

02

Standard of Care & Daily Management

Learn the standard of care for managing Ehlers-Danlos Syndrome (EDS). Discover physical therapy tips, joint protection strategies, and specialized vEDS care.

03

Building Your EDS Care Team & Specialist Referrals

Learn how to build a multidisciplinary care team for Ehlers-Danlos Syndrome (EDS). Find out which specialists you need and how to vet doctors for EDS care.

The Emotional Transition

Receiving a diagnosis for a chronic, incurable condition is a major life event. You may feel a “complex emotional transition” [22]. It is normal to feel grief for the years lost to the diagnostic odyssey, or anxiety about the future [22][26]. Validation is a powerful medicine; knowing that your pain has a physical, genetic basis is the first step toward building a life that works with your body, rather than against it [21][12].

Common questions in this guide

What causes Ehlers-Danlos Syndrome?
EDS is caused by genetic mutations that affect your body's collagen or extracellular matrix. This results in collagen that is either insufficient or shaped incorrectly, making your connective tissues overly flexible and fragile.
How many subtypes of Ehlers-Danlos Syndrome are there?
There are currently 13 recognized subtypes of EDS. Hypermobile EDS (hEDS) is the most common, while others like Classical EDS and Vascular EDS have different specific genetic markers and physical symptoms.
Why does EDS affect so many different parts of my body?
Because EDS is a connective tissue disorder, and connective tissue is the 'glue' found throughout your entire body. This multisystemic nature means it can affect your joints, skin, blood vessels, digestion, and even your heart rate.
Is there a cure for Ehlers-Danlos Syndrome?
There is currently no cure that fixes the underlying collagen defect in EDS. However, symptoms can be proactively managed through specialized physical therapy, lifestyle adjustments, and building a supportive care team.
How do I know which EDS subtype I have?
Your subtype is determined by a doctor using specific clinical diagnostic criteria or genetic testing. While most types have an identifiable genetic marker, hypermobile EDS is currently diagnosed solely using a clinical checklist.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.Which of the 13 subtypes of EDS do I have, and was this determined by clinical criteria or genetic testing?
  2. 2.Based on my diagnosis, what specific screening should I have for common 'comorbid' conditions like POTS or MCAS?
  3. 3.Can you recommend a physical therapist who has specific experience working with hypermobile patients?
  4. 4.What are the specific 'red flag' symptoms I should look for that would require immediate medical attention for my subtype?
  5. 5.How does this diagnosis change the way we manage my existing symptoms, such as chronic pain or fatigue?

Questions For You

Tap a prompt to share your answer — we'll use it plus this page's context to start a tailored conversation.

Related questions

What Is Ehlers-Danlos Misdiagnosed As?

References

References (26)
  1. 1

    Health care supply in patients with Ehlers-Danlos syndromes and generalized hypermobility spectrum disorder: a German perspective.

    Rauterberg J, Hock M, Kernich N, et al.

    Orphanet journal of rare diseases 2025; (20(1)):436 doi:10.1186/s13023-025-03937-4.

    PMID: 40819036
  2. 2

    Defining the Chronic Complexities of hEDS and HSD: A Global Survey of Diagnostic Challenges, Life-Long Comorbidities, and Unmet Needs.

    Daylor V, Griggs M, Weintraub A, et al.

    Journal of clinical medicine 2025; (14(16)) doi:10.3390/jcm14165636.

    PMID: 40869462
  3. 3

    Comorbidity, misdiagnoses, and the diagnostic odyssey in patients with hypermobile Ehlers-Danlos syndrome.

    Halverson CME, Cao S, Perkins SM, Francomano CA

    Genetics in medicine open 2023; (1(1)):100812 doi:10.1016/j.gimo.2023.100812.

    PMID: 39669244
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    Healthcare experiences among adults with hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorder in the United States.

    Estrella E, Frazier PA

    Disability and rehabilitation 2024; (46(4)):731-740 doi:10.1080/09638288.2023.2176554.

    PMID: 36772820
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    A review of Ehlers-Danlos syndrome.

    Miller E, Grosel JM

    JAAPA : official journal of the American Academy of Physician Assistants 2020; (33(4)):23-28 doi:10.1097/01.JAA.0000657160.48246.91.

    PMID: 32175940
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    An overview of Ehlers Danlos syndrome and the link between postural orthostatic tachycardia syndrome and gastrointestinal symptoms with a focus on gastroparesis.

    Wu W, Ho V

    Frontiers in neurology 2024; (15()):1379646 doi:10.3389/fneur.2024.1379646.

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    Pathogenic mechanisms in genetically defined Ehlers-Danlos syndromes.

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    Understanding the basis of Ehlers-Danlos syndrome in the era of the next-generation sequencing.

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    A Case of Early Osteoarthritis in a Patient With Ehlers-Danlos Syndrome.

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    Cureus 2022; (14(7)):e27069 doi:10.7759/cureus.27069.

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    Predictors of pain and mobility disability in the hypermobile Ehlers-Danlos syndrome.

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    Disability and rehabilitation 2020; (42(25)):3679-3686 doi:10.1080/09638288.2019.1608595.

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    Hypermobile Ehlers-Danlos Syndrome: Diagnostic Challenges and the Role of Genetic Testing.

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    A family with Classical Ehlers-Danlos Syndrome (cEDS), mild bone fragility and without vascular complications, caused by the p.Arg312Cys mutation in COL1A1.

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    European journal of medical genetics 2020; (63(2)):103730 doi:10.1016/j.ejmg.2019.103730.

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    Generation of the human induced pluripotent stem cell line (IBKMOLi003-A) from PBMCs of a vascular Ehlers-Danlos syndrome (vEDS) patient carrying the heterozygous nonsense mutation c.430C > T (p.Q105*) in the COL3A1 gene.

    Höpperger S, Spathopoulou A, Mayer-Suess L, et al.

    Stem cell research 2024; (75()):103321 doi:10.1016/j.scr.2024.103321.

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    A patient with a novel pathogenic variant in COL5A1 exhibiting prominent vascular and cardiac features.

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    American journal of medical genetics. Part A 2022; (188(7)):2192-2197 doi:10.1002/ajmg.a.62745.

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This page provides general educational information about Ehlers-Danlos Syndrome and its subtypes. It does not replace professional medical advice from your care team or specialists.

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