Subtypes

The 2017 International Classification defines thirteen EDS subtypes. Twelve have confirmed molecular bases; hEDS — the most common — remains a clinical diagnosis. HSD sits beside them as the residual category for symptomatic hypermobility.

• Hypermobile Ehlers-Danlos syndrome

  hEDScandidate emerging

  The most common and least genetically resolved EDS type. Diagnosis remains clinical under the 2017 criteria; the KLK15 finding (2025) is the first associated gene but explains only a subset of families, with HEDGE (n=1,000) expected to clarify.

  unknown · KLK15

• Classical Ehlers-Danlos syndrome

  cEDSconfirmed molecular basis

  The archetypal skin-predominant type. Molecular confirmation via COL5A1/COL5A2 identifies the large majority of cases meeting clinical criteria.

  autosomal dominant · COL5A1, COL5A2

• Vascular Ehlers-Danlos syndrome

  vEDSconfirmed molecular basis

  The severe vascular type defined by COL3A1 variants. Arterial dissection and organ rupture drive its distinct management, including cautious surgical and anesthetic approaches and celiprolol debate.

  autosomal dominant · COL3A1

• Classical-like Ehlers-Danlos syndrome

  clEDSconfirmed molecular basis

  Recessive classical-like presentation caused by tenascin-X deficiency; distinguished from cEDS by absent atrophic scarring and recessive inheritance.

  autosomal recessive · TNXB

• Cardiac-valvular Ehlers-Danlos syndrome

  cvEDSconfirmed molecular basis

  Ultra-rare recessive type caused by specific COL1A2 variants; severe progressive valvular disease is the defining risk.

  autosomal recessive · COL1A2

• Arthrochalasia Ehlers-Danlos syndrome

  aEDSconfirmed molecular basis

  Dominant type caused by variants disrupting the COL1A1/COL1A2 N-propeptide cleavage sites; presents at birth with hip dislocation and marked laxity.

  autosomal dominant · COL1A1, COL1A2

• Dermatosparaxis Ehlers-Danlos syndrome

  dEDSconfirmed molecular basis

  Recessive type caused by ADAMTS2 deficiency (procollagen N-peptidase), producing extreme skin fragility.

  autosomal recessive · ADAMTS2

• Kyphoscoliotic Ehlers-Danlos syndrome

  kEDSconfirmed molecular basis

  Recessive type with congenital scoliosis and lysyl-hydroxylase-pathway defects (PLOD1; FKBP14 for a related form).

  autosomal recessive · PLOD1, FKBP14

• Brittle cornea syndrome

  BCSconfirmed molecular basis

  Recessive type dominated by ocular fragility; protective eyewear is a standard management point.

  autosomal recessive · ZNF469, PRDM5

• Spondylodysplastic Ehlers-Danlos syndrome

  spEDSconfirmed molecular basis

  Recessive type involving proteoglycan-pathway and zinc-transporter defects; overlaps with spondylo-ocular phenotypes.

  autosomal recessive · B4GALT7, B3GALT6, SLC39A13

• Musculocontractural Ehlers-Danlos syndrome

  mcEDSconfirmed molecular basis

  Recessive type caused by dermatan-sulfate epimerase/sulfotransferase defects; congenital contractures are characteristic.

  autosomal recessive · CHST14, DSE

• Myopathic Ehlers-Danlos syndrome

  mEDSconfirmed molecular basis

  Type overlapping myopathy and connective-tissue disease, caused by COL12A1 variants; both dominant and recessive forms reported.

  autosomal dominant or recessive · COL12A1

• Periodontal Ehlers-Danlos syndrome

  pEDSconfirmed molecular basis

  Dominant type driven by complement-pathway (C1R/C1S) variants; severe early periodontal disease is the defining feature.

  autosomal dominant · C1R, C1S

• Hypermobility spectrum disorder

  HSDunknown

  The residual category for symptomatic hypermobility falling short of hEDS criteria. Whether HSD and hEDS are meaningfully distinct is an open research question tracked by this index.

  unknown