Understanding Ehlers-Danlos Syndromes (EDS)
Subtypes, symptoms, and prevalence
The Ehlers-Danlos syndromes (EDS) are a group of inherited conditions that affect connective tissue, the material that holds skin, joints, blood vessels, and organs together. Connective tissue is built largely from collagen. In EDS, the body either makes collagen incorrectly or has a problem with another protein that supports connective tissue.
Most types share a few features: joints that move beyond the normal range, skin that is soft, stretchy, or fragile, easy bruising, and slow or unusual wound healing. Connective tissue is everywhere in the body, so EDS can affect many systems, not just skin and joints.
The subtypes
The 2017 International Classification recognizes 13 subtypes. Each has its own features, severity, and, for all but one, a known genetic cause. One more type, AEBP1-related classical-like EDS (classical-like type 2), was described after 2017 and is not part of the formal 13. It is described last, for completeness.
*This data was obtained in 2026 and may change over time
Hypermobile (hEDS)
Inheritance: autosomal dominant / multi factorial
Genes: unknown; diagnosis is clinical
Symptoms: Generalized joint hypermobility, chronic joint pain, recurrent dislocations and subluxations, soft skin, fatigue, digestive problems. Often with anxiety, orthostatic intolerance, pelvic floor and bladder issues.
Estimated prevalence: Most common subtype, about 80 to 90% of EDS. With HSD, estimated near 1 in 300 to 500. hEDS alone estimated at least about 1 in 3,100 to 5,000.
Classical (cEDS)
Inheritance: autosomal dominant
Genes: COL5A1, COL5A2 (rarely COL1A1)
Symptoms: Very stretchy skin, wide thin "cigarette paper" scars, easy bruising, joint hypermobility, fragile skin, fleshy bumps near scars, small hard lumps under the skin.
Estimated prevalence: About 1 in 20,000.
Classical-like (clEDS)
Inheritance: autosomal recessive
Genes: TNXB
Symptoms: Stretchy, velvety skin without atrophic scarring, generalized hypermobility, easy bruising.
Estimated prevalence: Very rare, ~56 individuals reported cases
Vascular (vEDS)
Inheritance: autosomal dominant
Genes: COL3A1 (rarely COL1A1)
Symptoms: Thin translucent skin with visible veins, easy bruising, characteristic facial features, risk of spontaneous rupture of arteries, intestines, or the uterus in pregnancy. Most severe type. First major event often by age 20. Median survival about 51 years (roughly 49 in men, 53 in women), wide range.
Estimated prevalence: About 1 in 50,000 to 1 in 200,000.
Cardiac-valvular (cvEDS)
Inheritance: autosomal recessive
Genes: COL1A2 (biallelic null)
Symptoms: Severe heart valve disease (mitral, aortic), skin hyperextensibility, joint hypermobility, easy bruising, atrophic scarring.
Estimated prevalence: Very rare, ~7 reported cases
Arthrochalasia (aEDS)
Inheritance: autosomal dominant
Genes: COL1A1, COL1A2
Symptoms: Severe hypermobility, congenital bilateral hip dislocation, frequent dislocations, stretchy skin, easy bruising, low muscle tone.
Estimated prevalence: Very rare, ~30 reported cases
Dermatosparaxis (dEDS)
Inheritance: autosomal recessive
Genes: ADAMTS2
Symptoms: Extremely fragile skin that tears easily, severe bruising, loose sagging skin with redundant folds, hernias, delayed closure of fontanelles.
Estimated prevalence: Very rare, ~20 reported cases
Kyphoscoliotic (kEDS)
Inheritance: autosomal recessive
Genes: PLOD1, FKBP14
Symptoms: Low muscle tone at birth, progressive scoliosis, joint hypermobility, fragile eyes, easy bruising, risk of arterial rupture.
Estimated prevalence: Rare, ~ 1 in 100,000.
Brittle Cornea Syndrome (BCS)
Inheritance: autosomal recessive
Genes: ZNF469, PRDM5
Symptoms: Thin corneas at risk of rupture, progressive vision problems (keratoconus, keratoglobus), blue sclerae, joint hypermobility.
Estimated prevalence: Very rare, ~85 reported cases
Spondylodysplastic (spEDS)
Inheritance: autosomal recessive
Genes: B4GALT7, B3GALT6, SLC39A13
Symptoms: Short stature, low muscle tone, bowed limbs, stretchy and doughy skin, delayed motor development.
Estimated prevalence: Very rare ~35 reported cases
Musculocontractural (mcEDS)
Inheritance: autosomal recessive
Genes: CHST14, DSE
Symptoms: Congenital contractures of fingers and feet, hypermobility in other joints, stretchy skin, easy bruising, atrophic scarring, distinctive facial features.
Estimated prevalence: Very rare, ~80 reported cases
Myopathic (mEDS)
Inheritance: autosomal dominant or recessive
Genes: COL12A1
Symptoms: Muscle weakness from birth or early childhood, contractures in proximal joints, hypermobility in distal joints, soft doughy skin.
Estimated prevalence: Very rare, ~25 reported cases
Periodontal (pEDS)
Inheritance: autosomal dominant
Genes: C1R, C1S
Symptoms: Severe early gum disease and tooth loss, lack of attached gum tissue, skin fragility, easy bruising, joint hypermobility.
Estimated prevalence: Very rare, ~120 reported cases
AEBP1-related classical-like (clEDS2)
Inheritance: autosomal recessive
Genes: AEBP1
Symptoms: Stretchy skin, joint hypermobility, easy bruising, similar to classical EDS. Described after 2017, not part of the formal 13 subtypes.
Estimated prevalence: Very rare, ~15 reported cases
Learn more or get evaluated
Curious about hEDS and HSD, start here: hEDS vs HSD: What Is the Difference?
Anyone wondering whether they have hEDS, HSD or a different connective tissue disorder can book an hEDS evaluation.
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