If you’ve been diagnosed with Ehlers-Danlos Syndrome (EDS) or suspect you might have it, you likely have questions about Ehlers-Danlos Syndrome symptoms, causes, and the different types. Understanding how EDS affects your body can help you manage symptoms and seek the right care.

Ehlers-Danlos Syndrome (EDS) is a group of connective tissue disorders that affect the body’s ability to produce collagen, a key protein responsible for providing strength, scaffolding structural support and elasticity to skin, joints, organs and blood vessels[1]. It is part of a group of conditions known as Heritable (Genetic) Connective Tissue Disorders.

Basically, connective tissues are the materials in your body that hold it together. Due to this defect of collagen, people with EDS often experience symptoms such as joint hypermobility, fragile skin, muscle and joint problems, chronic pain, body-wide symptoms and increased risk of bruising or injury.  These disorders can be genetic (inherited) or acquired (developed due to autoimmune or environmental factors).

What’s happening to your body in EDS?

Your body relies on collagen and other proteins for to keep you skin, joints and organs strong, stable and supported. Each type of EDS is caused by changes in certain genes that normally tell the body how to make collagen and other similar proteins. Some types of EDS are linked to more than one gene. But for Hypermobile EDS (hEDS), the exact genetic cause hasn’t been found yet.

These genetic issues can lead to:

• Joint hypermobility – your joints may move beyond the normal range of motion, leading to unstable joints, frequent sprains , injuries, subluxations or dislocations and joint pain.
• Fragile or stretchy skin – You may notice that your skin bruises easily, takes longer to heal, or scars differently, or that your skin that can be stretched more than usual.
• Chronic pain and fatigue – Many people with EDS experience widespread pain, which can be difficult to manage [2].
• Gut and heart or blood vessel issues – Some types of EDS affect internal organs, leading to gut problems or blood vessel and heart complications.
• Body-wide health issues – including gut issues, anxiety, allergies and reactions to foods and medications, brain fog, dental, bone, and bladder and bowel challenges.

How common is Ehlers-Danlos Syndrome (EDS)?

EDS is considered rare, but Hypermobile EDS (hEDS) which is the most common type of EDS, accounts for about 90% of EDS cases is thought to affect 1 in 3000 – 1 in 5000 people [4][3]. However, as Hypermobile Spectrum Disorders and hEDS are similar in that many of their signs and symptoms overlap, misdiagnosis occurs, and many cases go undiagnosed because Ehlers-Danlos Syndrome’s symptoms can be mistaken for other conditions like fibromyalgia or chronic pain conditions [5] [6].

Main types of Connective Tissue Disorders

Heritable (Genetic) Connective Tissue Disorders

These are caused by alterations or defects in genes that affect connective tissue proteins like collagen, fibrillin or elastin. Examples include:

• Ehlers-Danlos Syndrome (EDS): A group of 13 disorders affecting collagen and other structural proteins, leading to hypermobility, fragile skin, and vascular complications.
• Marfan Syndrome: Affects connective tissue, leading to long limbs, joint hypermobility, and heart complications (such as aortic aneurysms).
• Loeys-Dietz Syndrome (LDS): Similar to Marfan Syndrome but with distinctive facial features and a higher risk of arterial rupture.
• Osteogenesis Imperfecta (Brittle Bone Disease): A disorder that affects collagen production, causing fragile bones that break easily.
• Stickler Syndrome: Affects collagen and leads to joint, eye, and hearing problems.

Autoimmune Connective Tissue Disorders

These occur when the immune system mistakenly attacks the body’s connective tissues, leading to inflammation and damage. Examples include:

• Systemic Lupus Erythematosus (SLE): A chronic autoimmune disease that can affect the skin, joints, kidneys, and other organs.
• Rheumatoid Arthritis (RA): Causes inflammation and pain in the joints due to an autoimmune response.
• Scleroderma: Leads to hardening and tightening of the skin and internal organ damage due to excessive collagen production.
• Sjogren’s Syndrome: Affects moisture-producing glands, causing dry eyes and mouth, and can also impact joints and organs.
• Mixed Connective Tissue Disease (MCTD): A condition with overlapping features of lupus, scleroderma, and polymyositis.

Understanding the causes, symptoms, and body systems affected of the 13 Types of Ehlers-Danlos Syndrome (EDS)

EDS is a condition you’re born with – it’s genetic, which means it runs in families and is inherited from your parents. There are 13 different types of EDS, and each one comes with its own set of symptoms and causes.

Some types of EDS are passed on from parent to child in a way called autosomal dominant. Other types of EDS are passed down in a different way – it’s called autosomal recessive. These might sound a bit technical, but here’s what they means:

• Autosomal means the gene that causes the condition isn’t linked to your sex – so it can affect anyone, no matter if you’re male or female.

• Dominant means you only need one copy of the gene change (from one parent) to have the condition.
  So, if one of your parents has that gene change, there’s a 50/50 chance they’ll pass it on to you. Conditions like Marfan syndrome and Hypermobile EDS (hEDS) are inherited this way.

• Recessive means you need two copies of the gene change – one from each parent – to have the condition.

If both parents are carriers (they don’t have the condition themselves, but carry one copy of the gene), then there’s a 1 in 4 chance (25%) their child will inherit the condition. Classical EDS (cEDS) and cystic fibrosis are examples of this type.

People with EDS often deal with things like overly flexible joints, skin that bruises easily, and long-term pain. While there are 13 known types of EDS, each one affects people differently and comes with its own challenges.

1. Hypermobile Ehlers-Danlos Syndrome (hEDS)[3]

The most common type, hEDS is known for widespread joint hypermobility / joint hyperflexibility, body-wide symptoms and chronic pain. Fatigue, dizziness, and digestive problems are also common. Unlike other forms of EDS, no specific genetic mutation has been identified yet.

• Collagen & Proteins Involved: Although the exact cause is still under investigation, hEDS . The Norris Lab is researching other biomarkers to help identify and diagnose more easily hEDS. The pattern for inheritance is  autosomal dominant.
• Body Systems Affected:
• Musculoskeletal: Hypermobile joints, pain, joint subluxations or dislocations and soft tissue injuries.
  • Skin: Soft skin that stretches more than normal.
  • Other: Chronic fatigue, gastrointestinal issues, and autonomic dysfunction.
• Symptoms: Frequent joint subluxations or dislocations, chronic pain, fatigue, and skin that stretches more than normal.

2. Classical Ehlers-Danlos Syndrome (cEDS)

People with cEDS often have stretchy, fragile skin that bruises and rips easily and heals with wide scars. Joint hypermobility is common, making subluxations, dislocations, fatigue, gut issues and pain frequent.

• Collagen & Proteins Involved: Defects in type I and type V collagen, which provide strength and stability to the skin, bones, and blood vessels. The pattern for inheritance is  autosomal dominant.
• Body Systems Affected:
  • Skin: Soft, velvety, doughy like skin that is also and hyper-elastic and bruises easily and heals slowly.
  • Musculoskeletal: Joint hypermobility, dislocations, and frequent sprains.
  • Other: Fragile blood vessels that may lead to easy bruising and internal bleeding.
• Symptoms: Stretchy fragile skin, joint hypermobility, frequent large bruises under the skin and easy bruising.

For more information refer to Classical Ehlers-Danlos Syndrome (cEDS) – The Ehlers Danlos Society

3. Vascular Ehlers-Danlos Syndrome (vEDS)

One of the most serious types, vEDS affects blood vessels, making them prone to rupture. It can also weaken internal organs, increasing the risk of life-threatening complications.

• Collagen & Proteins Involved: A defect in type III collagen, which is crucial for the strength of blood vessels and internal organs. The pattern for inheritance is  autosomal dominant.
• Body Systems Affected:
  • Vascular: The most severe type, affecting fragility of blood vessels, leading to a risk of rupture and aneurysm.
  • Musculoskeletal: Less pronounced joint hypermobility compared to other types.
  • Other: Organ fragility rupture, spontaneous bruising, and skin that appears thin and translucent .
• Symptoms: Thin skin, easy bruising, and a high risk of blood vessel or vascular rupture, leading to life-threatening situations.

For more information refer to vEDS – The Ehlers Danlos Society

4. Kyphoscoliotic Ehlers-Danlos Syndrome (kEDS)

A form of EDS that causes severe scoliosis (curved spine) from birth. Weak muscle tone, fragile blood vessels, and joint hypermobility are also common.

• Collagen & Proteins Involved: Defects in type I collagen and the enzyme responsible for its processing. The pattern for inheritance is autosomal recessive.
• Body Systems Affected:
  • Musculoskeletal: Severe scoliosis (curvature of the spine) and kyphosis (hunching of the back).
  • Eyes: Fragile eyes, leading to vision problems.
  • Other: Muscle weakness and joint instability.
• Symptoms: Progressive scoliosis, muscle weakness, and joint hypermobility.

For more information refer to kEDS – The Ehlers Danlos Society

5. Arthrochalasia Ehlers-Danlos Syndrome (aEDS)

This rare type causes extreme joint laxity, leading to frequent dislocations. It can also result in fragile skin and an increased risk of fractures.

• Collagen & Proteins Involved: A defect in type I collagen The pattern for inheritance is  autosomal recessive.
• Body Systems Affected:
  • Musculoskeletal: Severe joint hypermobility, especially in the hips and shoulders, leading to frequent dislocations.
  • Other: Fragile skin, but not as pronounced as in other forms.
• Symptoms: Joint dislocations, skin that stretches easily, and high risk of musculoskeletal injuries.

For more information refer to aEDS – The Ehlers Danlos Society

6. Dermatosparaxis Ehlers-Danlos Syndrome (dEDS)

Characterised by very loose, sagging skin that bruises easily, dEDS also causes hernias and delayed wound healing.

• Collagen & Proteins Involved: Defects in type I collagen, specifically the enzymes that help form it. The pattern for inheritance is autosomal recessive.
• Body Systems Affected:
  • Skin: Extremely fragile, sagging skin that is highly prone to bruising and tearing.
  • Other: Fragile blood vessels and loose joints.
• Symptoms: Easily bruised, sagging skin, and joint instability.

For more information refer to dEDS – The Ehlers Danlos Society

7. Brittle Cornea Syndrome (BCS)

This type mainly affects the eyes, leading to severe thinning of the cornea. People with BCS may experience vision loss and an increased risk of eye injuries.

• Collagen & Proteins Involved: Defects in type V collagen, crucial for the cornea’s structure. The pattern for inheritance is autosomal recessive.
• Body Systems Affected:
  • Eyes: Fragile corneas that can lead to vision impairment and even spontaneous rupture.
  • Other: Mild joint hypermobility.
• Symptoms: Fragile corneas and the potential for severe vision issues.

For more information refer to Brittle Cornea Syndrome (BCS) – The Ehlers Danlos Society

8. Musculocontractural Ehlers-Danlos Syndrome (mcEDS)

People with mcEDS may have distinctive facial features, joint contractures (stiffness), fragile skin, and issues with internal organs.

• Collagen & Proteins Involved: Caused by mutations in the CHST14 gene. The pattern for inheritance is autosomal recessive.
• Body Systems Affected:
  • Musculoskeletal: Contractures (tightening of the muscles and joints) that lead to limited mobility. These contractures may often seen at birth. Low muscle tone and slow to to reach physical development milestones like, sitting, standing and walking. Long, slender, or cylindrical finger and foot and spinal deformities.
  • Other: Facial features may appear slightly abnormal due to musculoskeletal involvement. Frequent large bruises under the skin, with easy bruising and atrophic-thin stretched scarring, and low muscle tone.
• Symptoms: Joint contractures, restricted mobility, and characteristic facial features.

For more information refer to mcEDS – The Ehlers Danlos Society

9. Spondylodysplastic Ehlers-Danlos Syndrome (spEDS)

This type is associated with short stature, weak muscles, and skeletal abnormalities, such as spinal deformities.

• Collagen & Proteins Involved: Mutations in the B4GALT7 or B3GALT6 genes, which affect collagen processing. The pattern for inheritance is autosomal recessive.
• Body Systems Affected:
  • Skeletal: Short stature, bone deformities, and spinal issues.
  • Other: Some individuals may also have vision problems or other connective tissue issues.
• Symptoms: Short stature, scoliosis, and fragile bones.

For more information refer to spEDS – The Ehlers Danlos Society

10. Periodontal Ehlers-Danlos Syndrome (pEDS)

pEDS affects the gums and teeth, leading to severe gum disease (periodontitis) at an early age. Bone loss in the jaw is common.

• Collagen & Proteins Involved: Mutations in the C1R or C1S genes, which affect the collagen structure of the gums and teeth. The pattern for inheritance is  autosomal dominant.
• Body Systems Affected:
  • Dental: Periodontal disease, which leads to early tooth loss.
  • Other: Joint hyperflexibility and pain, and possible artery and organ issues.
• Symptoms: Early tooth loss and gum problems, in addition to joint issues.

For more information refer to  pEDS – The Ehlers Danlos Society

11. Myopathic Ehlers-Danlos Syndrome (mEDS)

This type causes muscle weakness from birth and joint hypermobility, particularly in the hands and feet. Over time, muscle strength may improve.

• Collagen & Proteins Involved: Mutations affecting collagen VI, which is critical for muscle and connective tissue. The pattern for inheritance is  autosomal recessive.
• Body Systems Affected:
  • Muscular: Muscle weakness and atrophy.
  • Other: Joint hypermobility.
• Symptoms: Muscle weakness, muscle wasting, and joint instability.

For more information refer to mEDS – The Ehlers Danlos Society

12. Classic-Like Ehlers-Danlos Syndrome (clEDS)

Similar to cEDS but without atrophic (sunken) scars, clEDS leads to hypermobile joints, soft skin, and a tendency to bruise easily.

• Collagen & Proteins Involved: Mutations in the TNXB gene, affecting tenascin-X, a protein that works in the extracellular matrix and stabilizes collagen.
• Body Systems Affected:
  • Musculoskeletal: Joint hypermobility and joint and muscle pain.
  • Skin: Easy bruising, with frequent large bruises under the skin. Skin that is fragile, possibly hyperextensible and has unusual scarring or healing times.
• Symptoms: Skin fragility, and musculoskeletal pain.

For more information refer to mcEDS – The Ehlers Danlos Society

13. Cardiac-Valvular Ehlers-Danlos Syndrome (cvEDS)

This type mainly affects the heart, causing severe valve problems. Joint hypermobility and fragile skin are also present.

• Collagen & Proteins Involved: Mutations affecting collagen type I, which is  a major protein that supports many tissues throughout the body and is critical for muscle and connective tissue. The pattern for inheritance is  autosomal recessive.
• Body Systems Affected:
  • Heart/Cardiac: Severe cardiac valve problems
  • Muscular: Muscle weakness and atrophy.
  • Other: Joint hypermobility.
  • Skin: is soft and hyperextensible and prone to scarring
• Symptoms:  Fatigue and cardiac issues often related to heat valve problems and joint instability.

For more information see cvEDS – The Ehlers Danlos Society

Connective Tissue disorders don’t always stick to one pattern and patients have multiple symptoms from differing types of protein and genetic involvement.  So, if you feel that you possibly have a rare type genetic testing is crucial.

Ehlers-Danlos Syndromes involve various genetic mutations that affect collagen and proteins responsible for the strength and elasticity of connective tissues. With 13 types, each variety presents a unique set of symptoms that affect skin, joints, blood vessels, and more. As the understanding of these genetic conditions evolves, patients with EDS may be better able to manage their symptoms with early diagnosis and tailored care.

Ehlers Danlos Syndromes symptoms, related genes, proteins and signs [8]

Type of EDS	Associated Gene(s)	Affected Protein(s)	Distinguishing Features
Hypermobile EDS (hEDS)	Unknown	Unknown	Generalised joint hypermobility Join instability Chronic Pain
Classical EDS (cEDS)	COL5A1	Type V collagen	Skin fragility with extensive atrophic scarring Very stretchy skin with velvety or doughy texture
	COL5A2	Type V collagen
	COL1A1	Type I collagen
Vascular EDS (vEDS)	COL3A1	Type III collagen	Arterial fragility with aneurysm/dissection/ rupture Organ fragility and rupture Extensive bruising Pneumothorax
	COL1A1	Type I collagen
Periodontal EDS (pEDS)	C1R	C1r	Severe, early-onset gum disease with tooth loss Pretibial plaques (discoloration of shins)
	C1S	C1s
Kyphoscoliotic EDS (kEDS)	PLOD1	LH1	Congenital/early-onset kyphoscoliosis Congenital hypotonia
	FKBP14	FKBP22
Spondylodysplastic EDS (spEDS)	B4GALT7	β4GalT7	Short stature Muscle weakness Limb bowing Craniofacial features
	B3GALT6	β3GalT6
	SLC39A13	ZIP13
Brittle cornea syndrome (BCS)	ZNF469	ZNF469	Severe problems with the cornea of the eye Hearing loss
	PRDM5	PRDM5
Arthrochalasia EDS (aEDS)	COL1A1	Type I collagen	Severe joint hypermobility Congenital bilateral hip dislocation
	COL1A2	Type 1 collagen
Musculocontractural EDS (mcEDS)	CHST14	D4ST1	Congenital multiple contractures Craniofacial features
	DSE	DSE
Classical-like EDS (clEDS)	TNXB	Tenascin XB	Stretchy, velvety skin without atrophic scarring Foot deformities Leg swelling
Dermatosparaxis EDS (dEDS)	ADAMTS2	ADAMTS-2	Extreme skin fragility Craniofacial features Loose, excessive skin Severe bruising Short limbs
Myopathic EDS (mEDS)	COL12A1	Type XII collagen	Congenital hypotonia Proximal joint contractures
Cardiac-valvular EDS (cvEDS)	COL1A2	Type I collagen	Severe heart valve insufficiency

For more information, visit:

• Ehlers-Danlos Society
• Hypermobility Syndromes Association
• EDS Research | The Norris Lab
• Genetic and Rare Diseases Information Center (GARD)
• National Library of Medicine

References

[1] Ehlers-Danlos Society. (20^th September 2024.). What is EDS? Retrieved from Ehlers-Danlos Society

[2] Castori, M., Tinkle, B., Levy, H., Grahame, R., Malfait, F., & Hakim, A. (2017). A framework for the classification of joint hypermobility and related conditions. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 175(1), 148-157.

[3] The Ehlers-Danlos Society. (2025). Hypermobile Ehlers-Danlos Syndrome (hEDS). Retrieved from https://www.ehlers-danlos.com/what-is-eds/hypermobile-ehlers-danlos%20-syndrome-heds/#1677083331463-eb88c7f2-2c85

[4] Demmler, J. C., Atkinson, M. D., Reinhold, E. J., Choy, E., Lyons, R. A., & Brophy, S. T. (2019). Diagnosed prevalence of Ehlers-Danlos syndrome and hypermobility spectrum disorder in Wales, UK: a national electronic cohort study and case–control comparison. BMJ open, 9(11), e031365-e031365. https://doi.org/10.1136/bmjopen-2019-031365

[5] Kumar, B. M. D., & Lenert, P. M. D. P. (2017). Joint Hypermobility Syndrome: Recognizing a Commonly Overlooked Cause of Chronic Pain. The American journal of medicine, 130(6), 640-647. https://doi.org/10.1016/j.amjmed.2017.02.013

[6] Malfait, F., Francomano, C., Byers, P., Belmont, J., Berglund, B., Black, J., … & Tinkle, B. (2020). The 2017 international classification of the Ehlers-Danlos syndromes. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 175(1), 5-7.

[7] BMJ Best Practice. (2024). Ehlers-Danlos syndrome – Symptoms, Diagnosis, and Treatment. Retrieved from BMJ

[8] The Ehlers-Danlos Society. (n.d.). Genetics and inheritance. The Ehlers-Danlos Society. https://www.ehlers-danlos.com/genetics-and-inheritance/