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Understanding the 13 Subtypes of Ehlers-Danlos Syndrome: A Clear, Human-Centered Guide
- Marcia Cristiane Perretto
- 1 day ago
- 5 min read
Ehlers-Danlos Syndrome is much more than flexible joints or stretchy skin. It is a group of heritable connective tissue disorders that can affect nearly every system in the body, often in ways that are confusing, misunderstood, or missed entirely by clinicians who are not familiar with the full spectrum of EDS.
What many people do not realize is that there are 13 distinct EDS subtypes, each with its own clinical features, genetic origins, risks, and care considerations. Understanding these subtypes is not just academic. It is one of the most powerful ways patients can make sense of their symptoms and get the right kind of support.
At ActifyPT in Boca Raton, we care for patients across the EDS spectrum. Some arrive with an established diagnosis. Others come because their symptoms have never fully made sense. In both cases, knowing the subtype is often the key to receiving the right guidance, the right screenings, and the safest approach to physical therapy and long-term management.
This guide breaks down each subtype in clear, approachable language without watering down the science. Whether you are a patient, a caregiver, or a clinician trying to deepen your understanding, this is your roadmap.
What Are the 13 Subtypes of Ehlers-Danlos Syndrome?
Below is a detailed overview of each EDS subtype. Each section includes hallmark symptoms, known genetic causes, distinguishing features, and considerations for care.
1. Hypermobile EDS (hEDS)
Key features:
Generalized joint hypermobility
Frequent subluxations
Dysautonomia symptoms, including POTS, in many patients
Genetics:The genetic marker for hEDS has not yet been identified. This makes diagnosis clinical rather than confirmatory through testing.
Why it matters:hEDS is the most common subtype. Because it lacks a genetic test, it is often misunderstood or minimized. Yet the functional impact can be significant. Many patients experience widespread instability, muscle compensation, and autonomic symptoms that affect daily life.
2. Classical EDS (cEDS)
Key features:
Significant skin hyperextensibility
Fragile or thin skin
Atrophic or "cigarette paper" scarring
Generalized joint hypermobility
Genetic cause:Most often associated with COL5A1 or COL5A2 mutations.
Why it matters:The skin findings are often striking, which can help guide diagnosis. Wound care and skin protection are essential parts of management.
3. Classical Like EDS (clEDS)
Key features:
Skin hyperextensibility
No classic atrophic scarring
Genetic cause:Usually linked to TNXB variants.
Why it matters:People with clEDS may look very similar to cEDS but without the hallmark scarring. Because of this, it can be harder to identify. A careful exam often makes the difference.
4. Vascular EDS (vEDS)
Key features:
Thin, translucent skin
Visible veins
Easy bruising
High risk of arterial or organ rupture
Genetic cause:Most cases involve COL3A1 mutations.
Why it matters:This is the subtype with the greatest potential for serious, life-threatening complications. Early recognition allows for important monitoring strategies, cardiovascular screening, and tailored activity guidelines.
5. Kyphoscoliotic EDS (kEDS)
Key features:
Severe and early-onset scoliosis
Muscle hypotonia in infancy
Possible fragile sclera
Genetic cause:Often associated with PLOD1 or FKBP14 variants.
Why it matters:This subtype tends to present early in life, prompting orthopedic involvement. Physical therapy plays a key role in functional support and long-term mobility strategies.
6. Arthrochalasia EDS (aEDS)
Key features:
Significant joint hypermobility
Frequent or congenital hip dislocations
Soft, fragile skin
Genetic cause:Many cases involve COL1A1 or COL1A2 mutations.
Why it matters:Infants may present with immediate orthopedic concerns. Lifelong joint protection and careful guidance with mobility are essential.
7. Dermatosparaxis EDS (dEDS)
Key features:
Extremely fragile, sagging skin
Severe bruising
Hernias
Genetic cause:Most cases stem from ADAMTS2 variants.
Why it matters:It is one of the rarest, yet its skin manifestations are some of the most visibly dramatic. Wound care and skin protection require a specialized approach.
8. Brittle Cornea Syndrome (BCS)
Key features:
Very thin corneas
High rupture risk
Severe myopia
Blue sclera
Genetic cause:Often involves ZNF469 or PRDM5.
Why it matters:Ophthalmologic monitoring is critical. Even minor eye injuries can pose serious risks.
9. Spondylodysplastic EDS (spEDS)
Key features:
Short stature
Muscle hypotonia
Skeletal abnormalities
Genetic cause:Variants in B4GALT7, B3GALT6, or SLC39A13.
Why it matters:Children may show early developmental delays or growth concerns, prompting multidisciplinary involvement.
10. Myopathic EDS (mEDS)
Key features:
Muscle weakness that often improves with age
Distal joint hypermobility
Contractures in hands or feet
Genetic cause:Linked to COL12A1.
Why it matters:Because of the overlap with neuromuscular disorders, accurate diagnosis requires a careful eye.
11. Musculocontractural EDS (mcEDS)
Key features:
Congenital contractures such as clubfoot
Craniofacial differences
Fragile skin
Easy bruising
Genetic cause:Often associated with CHST14 or DSE.
Why it matters:Early identification allows for early orthopedic intervention and long-term functional planning.
12. Periodontal EDS (pEDS)
Key features:
Early severe periodontal disease
Gum fragility
Easy bruising
Genetic cause:Most often involves C1R or C1S variants.
Why it matters:Dental care becomes a major part of management. Untreated, periodontal disease progresses rapidly.
13. Cardiac Valvular EDS (cvEDS)
Key features:
Progressive heart valve disease
Skin and joint involvement
Genetic cause:Frequently linked to COL1A2 mutations.
Why it matters:Ongoing cardiac monitoring is essential. This subtype benefits from early identification to reduce long-term risks.
Why Understanding Your EDS Subtype Matters
EDS is highly individual. Two people with the same subtype can have entirely different experiences. Yet understanding the subtype still matters because it helps clarify:
1. Medical risk factors. vEDS requires cardiovascular monitoring. pEDS requires early dental involvement. BCS needs ophthalmologic surveillance.
2. Appropriate referrals. Some subtypes need cardiology. Some need ophthalmology. Some need orthopedic and rehab support from the start.
3. Tailored physical therapy strategies. Joint stabilization looks different for hEDS than it does for aEDS or cEDS. Skin protection strategies are essential in dEDS and clEDS. Activity guidance is more cautious in vEDS.
4. Genetic counseling and family planning. Most subtypes follow autosomal dominant or recessive inheritance patterns. Understanding these patterns supports informed decision-making.
5. Long-term monitoring. Looking at the whole picture helps ensure subtle symptoms are not missed and care stays coordinated.
How EDS Is Diagnosed and Classified
A diagnosis typically involves:
A detailed clinical evaluation
A comprehensive family history
Specific genetic testing when available
Symptom tracking and documentation
Screening exams for systems at risk
It is important to note that not all subtypes have available genetic tests. hEDS remains primarily a clinical diagnosis.
Many patients benefit from reassessment over time, especially when symptoms evolve or new family history emerges.
The Role of Physical Therapy in EDS
Physical therapy is one of the most important components of EDS care. The right plan provides stability, proprioception, strength, and long-term confidence. The wrong plan pushes joints into unsafe ranges or overworks already exhausted stabilizers.
At ActifyPT, we tailor treatment to the specific needs of each subtype. This often includes:
Deep stabilizer strengthening
Joint protection strategies
Breath and movement retraining
Proprioceptive and motor control work
Postural and alignment training
Nervous system aware approaches
Thoughtful pacing recommendations
No two bodies with EDS move the same way, so no two plans should either.
A Note for Patients and Providers
If you suspect EDS or are unsure which subtype matches your symptoms, trust your instinct to keep asking questions. Subtype identification is not about labels. It is about clarity, safety, and the confidence that comes from knowing what your body needs.
As a leading provider of EDS-informed physical therapy in Boca Raton, ActifyPT is committed to helping patients understand their diagnosis and navigate their care with clarity and support.
References
Ehlers Danlos Society. (n.d.). Types of EDS. https://www.ehlers-danlos.com/types/ Ehlers-Danlos Support UK. (n.d.). Types of EDS. https://www.ehlers-danlos.org/what-is-eds/information-on-eds/types-of-eds/
Mayo Clinic. (n.d.). Ehlers-Danlos Syndrome overview. https://www.mayoclinic.org/diseases-conditions/ehlers-danlos-syndrome/symptoms-causes/syc-20362125
Disclaimer
This article is for educational purposes only. It does not replace medical evaluation, diagnosis, or individualized advice from a licensed healthcare provider. Always consult a clinician experienced in Ehlers-Danlos Syndrome for testing, classification, and treatment planning.