EDS subtypes

The 2017 International Classification defines thirteen types of EDS. Twelve have known causative genes and can be confirmed with a genetic test. hEDS, the most common, is still diagnosed from clinical signs alone. Hypermobility spectrum disorder (HSD) covers people with symptomatic joint hypermobility who do not meet the hEDS criteria.

By Hraness · Drafted with AI assistance.

• Hypermobile Ehlers-Danlos syndrome

  hEDScandidate gene, not confirmed

  The most common EDS type and the only one in the 2017 classification without a confirmed gene. Diagnosis is clinical, under the 2017 criteria. KLK15, published in 2025, is a candidate gene that is not yet used for diagnosis, and the HEDGE study of 1,000 people with hEDS is expected to report further findings.

  unknown · candidate gene KLK15

• Classical Ehlers-Danlos syndrome

  cEDSconfirmed genes

  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 genes

  Vascular EDS is caused by COL3A1 variants. Arteries, the bowel, and the uterus can tear or rupture, and that risk shapes how surgery and anesthesia are approached.

  autosomal dominant · COL3A1

• Classical-like Ehlers-Danlos syndrome

  clEDSconfirmed genes

  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 genes

  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 genes

  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 genes

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

  autosomal recessive · ADAMTS2

• Kyphoscoliotic Ehlers-Danlos syndrome

  kEDSconfirmed genes

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

  autosomal recessive · PLOD1, FKBP14

• Brittle cornea syndrome

  BCSconfirmed genes

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

  autosomal recessive · ZNF469, PRDM5

• Spondylodysplastic Ehlers-Danlos syndrome

  spEDSconfirmed genes

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

  autosomal recessive · B4GALT7, B3GALT6, SLC39A13

• Musculocontractural Ehlers-Danlos syndrome

  mcEDSconfirmed genes

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

  autosomal recessive · CHST14, DSE

• Myopathic Ehlers-Danlos syndrome

  mEDSconfirmed genes

  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 genes

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

  autosomal dominant · C1R, C1S

• Hypermobility spectrum disorder

  HSDno known gene

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

  unknown