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Ehlers-Danlos syndromes classification and pathogenesis

Ehlers-Danlos syndromes classification and pathogenesis
Clinical subtype Old nomenclature Gene (encoded protein) Type of process affected by pathogenic variant Inheritance pattern
Classical EDS (cEDS)* Classical EDS, types I and II
  • COL5A1, COL5A2 (type V collagen)
  • Rarely COL1A1 (type 1 collagen)
 Collagen primary structure and/or processing AD
Classical-like 1 EDS (clEDS1)* TNXB-deficient EDS
  • TNXB (Tenascin XB)
 Myomatrix structure and function AR
Classical-like 2 EDS (clEDS2)*¶  
  • AEBP1 (ACLP)
 Collagen assembly AR
Classical-like 3 EDS (clEDS3)*¶  
  • THBS2
 Extracellular matrix protein AD
Cardiac-valvular EDS (cvEDS)*  
  • COL1A1 (type I collagen)
 Collagen primary structure and/or processing AR
Vascular EDS (vEDS)* Vascular EDS, type IV
  • COL3A1 (type III collagen)
  • COL1A1 (type I collagen)
 Collagen primary structure and/or processing AD
Hypermobile EDS (hEDS) Hypermobile EDS, type III
  • Unknown
   AD
Arthrochalasia EDS (aEDS)* Arthrochalasia, types VIIA and VIIB
  • COL1A1, COL1A2 (type I collagen)
 Collagen primary structure and/or processing AD
Dermatosparaxis EDS (dEDS)* Dermatosparaxis EDS, type VIIC
  • ADAMTS2 (ADAMSTS-2)
 Collagen primary structure and/or processing AR
Kyphoscoliotic EDS (kEDS)* Kyphoscoliosis EDS, type VI
  • PLOD1 (LH1)
  • FKBP14 (FKBP22)
 Collagen folding and crosslinking AR
Brittle cornea syndrome (BCS)* Brittle cornea syndrome
  • ZNF469 (ZNF469)
  • PRDM5 (PRDM5)
 Other intracellular processes AR
Spondylodysplastic EDS (spEDS)*

EDS progeroid type

Spondylocheirodysplastic EDS
  • B4GALT7 (beta4GalT7)
  • B3GALT6 (beta3GalT6)
  • SLC39A13 (ZIP13)
 Glycosaminoglycan biosynthesis or other intracellular processes AR
Musculocontractural EDS (mcEDS)*

Adducted thumb

Clubfoot Syndrome

B3GalT6-deficient EDS

EDS Kosho type
  • CHST14 (D4ST1)
  • DSE (DSE)
 Glycosaminoglycan biosynthesis AR
Myopathic EDS (mEDS)*  
  • COL12A1 (type XII collagen)
 Myomatrix structure and function AD or AR
Periodontal EDS (pEDS)* Periodontitis, type VIII
  • C1R (C1r)
  • C1S (C1s)
 Complement pathway AD
To be used with UpToDate content on the clinical manifestations and diagnosis of Ehlers-Danlos syndromes.

AD: autosomal dominant; AR: autosomal recessive; EDS: Ehlers-Danlos syndrome.

* Diagnosis can be confirmed through sequencing and/or deletion/duplication analysis of the affected gene.

¶ Subtype named after publication of the 2017 classification criteria.
Adapted from: Malfait F, Francomano C, Byers P, et al. The 2017 international classification of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet 2017; 175:8.
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