The 14 EDS subtypes, in plain words

Ehlers-Danlos syndromes are a family of inherited connective tissue disorders. The 2017 international classification recognized 13 subtypes, and a 14th, classical-like type 2, was added in 2018. The subtypes share joint hypermobility, skin findings, and tissue fragility in varying degrees. They differ in which gene is involved, which tissues are most affected, what complications develop, and how dangerous the condition is. Generalized hypermobility spectrum disorder is a related diagnostic category for symptomatic hypermobility that does not meet hypermobile EDS criteria.

This piece is a reference. Each subtype links to its own page on the rare disorder reference.

The collagen-and-related-protein groups

Most EDS subtypes are caused by variants in genes that build, modify, or organize collagen. Type I collagen, the body's main load-bearing collagen, is in skin, tendons, ligaments, bone, and the walls of large vessels. Type III collagen is concentrated in arteries, the gravid uterus, and hollow organs. Type V collagen is a regulatory collagen that determines how type I collagen fibrils assemble. Other genes encode the enzymes that crosslink and process collagens, or the extracellular matrix proteins that organize them.

The clinical picture follows the biology. Variants in arterial-and-organ collagens produce vascular phenotypes. Variants in skin-and-joint collagens produce skin and joint phenotypes. Variants in collagen-organizing proteins produce mixed pictures whose dominant features depend on the protein.

Hypermobile EDS, hEDS

The most common subtype and the only one without an identified gene. Diagnosis is clinical, by the 2017 criteria. Joint hypermobility is the central feature, paired with chronic pain, fatigue, frequent autonomic and gastrointestinal symptoms, and a high comorbidity rate with postural orthostatic tachycardia syndrome and mast cell activation syndrome. The genetics search continues. The condition that most needs longitudinal data is the one without a confirmatory test.

Classical EDS, cEDS

Variants in COL5A1, COL5A2, or rarely a specific COL1A1 variant. Autosomal dominant. The skin is dramatically hyperextensible and bruises spectacularly. Wounds heal poorly and leave wide, thin, atrophic scars on the forehead, knees, shins, and elbows. Generalized joint hypermobility is present. cEDS is the form Edvard Ehlers and Henri-Alexandre Danlos originally described.

Classical-like EDS, type 1, clEDS

Biallelic loss-of-function variants in TNXB, encoding tenascin-X. Autosomal recessive. The skin and joint findings resemble classical EDS but the atrophic scarring is typically absent or minimal. The TNXB locus on chromosome 6 sits next to a pseudogene that complicates sequencing, which means genetic testing accuracy varies by laboratory.

Classical-like EDS, type 2, clEDS2

Biallelic variants in AEBP1, an extracellular matrix protein that interacts with collagen. Autosomal recessive. Approximately fifteen cases have been reported worldwide as of 2024. Phenotype overlaps with classical EDS plus early-onset osteoporosis, dental abnormalities, and at least one documented case of life-threatening vascular complication.

Vascular EDS, vEDS

Variants in COL3A1, encoding type III collagen. Autosomal dominant. The dangerous EDS subtype. Major arteries can dissect or rupture in young adulthood without warning. The bowel can perforate. The gravid uterus can rupture during delivery. Median survival reported in the University of Washington COL3A1 cohort was about 51 years, with mutation type predicting severity. Pregnancy is high-risk and managed at experienced centers.

Cardiac-Valvular EDS, cvEDS

Biallelic loss-of-function variants in COL1A2. Autosomal recessive. Severe progressive cardiac valvular disease, particularly mitral and aortic regurgitation, frequently requiring valve repair or replacement in adulthood. Skin and joint findings of EDS are typically present but the valve disease is the clinical anchor and the cause of death without intervention.

Arthrochalasia EDS, aEDS

Variants in COL1A1 or COL1A2 affecting type I procollagen processing. Autosomal dominant. Severe generalized joint hypermobility with congenital bilateral hip dislocation as the typical presenting feature in the newborn. Recurrent dislocations and joint instability dominate the clinical course.

Dermatosparaxis EDS, dEDS

Biallelic variants in ADAMTS2, the enzyme that processes procollagen I. Autosomal recessive. Extreme skin fragility, with skin that tears and sags. Children present in infancy or early childhood with abnormally lax, fragile skin. Bruising is severe. Skin lacerations from minor trauma are routine.

Kyphoscoliotic EDS, kEDS

Biallelic variants in PLOD1, encoding lysyl hydroxylase 1, or in FKBP14. Autosomal recessive. Congenital severe muscular hypotonia, kyphoscoliosis at birth or early childhood, generalized joint hypermobility, and skin hyperextensibility. The PLOD1 form has elevated urinary deoxypyridinoline-to-pyridinoline ratio that can support diagnosis. Spinal deformity is the central long-term clinical problem.

Brittle Cornea Syndrome, BCS

Biallelic variants in ZNF469 or PRDM5. Autosomal recessive. Thin and fragile cornea that can rupture from minor trauma, blue sclerae, progressive keratoconus or keratoglobus, and high myopia. Skin and joint findings of EDS are typically mild. Eye-protection counseling is the central management point.

Spondylodysplastic EDS, spEDS

Variants in B4GALT7, B3GALT6, or SLC39A13. Autosomal recessive. Short stature, skeletal dysplasia, joint hypermobility, and progressive skin and joint findings. The B3GALT6 form, in particular, can produce significant vascular involvement.

Musculocontractural EDS, mcEDS

Biallelic variants in CHST14 or DSE. Autosomal recessive. Distinctive craniofacial features at birth, congenital multiple contractures of large joints, progressive joint dislocations, and skin hyperextensibility with vascular fragility. The chondroitin sulfate biosynthesis defect that causes mcEDS extends the genetic architecture of EDS further beyond collagen and into the proteoglycan side of the extracellular matrix.

Myopathic EDS, mEDS

Variants in COL12A1. Autosomal dominant or recessive. Congenital muscle hypotonia and weakness with proximal joint contractures, distal joint hypermobility, and skin hyperextensibility. The myopathic features overlap with the collagen VI myopathies and require careful muscle phenotyping for differentiation.

Periodontal EDS, pEDS

Variants in C1R or C1S. Autosomal dominant. Severe early-onset periodontitis, gingival recession, premature loss of permanent teeth, joint hypermobility, and skin findings. The complement component genes are an unusual EDS connection because complement is more typically associated with immune dysfunction than connective tissue disease.

Generalized hypermobility spectrum disorder, G-HSD

A diagnostic category sitting alongside EDS in the 2017 framework, distinct from the formal subtypes. People with generalized joint hypermobility plus joint instability and pain who do not meet the 2017 hEDS criteria are classified as G-HSD. The clinical picture is similar to hEDS in many respects, and management overlaps. Many people in the EDS community consider G-HSD a demotion rather than a separate diagnosis. The relationship between G-HSD and hEDS is one of the open questions in the field.

What this list does not capture

Severity within a subtype varies. People with the same gene variant in the same family can present very differently. Comorbidities, particularly the autonomic and gastrointestinal patterns common in hypermobile EDS, are not captured by the subtype label. The clinical experience of an adult with EDS, whichever subtype, often does not map cleanly onto the genetics. The list is a starting point. Each linked page goes deeper.