5th June 2025

Classification

The 2017 international classification recognises 13 subtypes:

EDS Subtype	Autosomal recessive or dominant	Gene affected	Resulting protein affected
1. Classical (cEDS)	Autosomal dominant	COL5A1, COL5A2, COL1A	Collagen Type V Collagen Type I
2. Classical-like (clEDS)	Autosomal recessive	TNXB	Tenascin XB
3. Cardiac-valvular (cvEDS)	Autosomal recessive	COL1A2	Collagen Type I
4. Vascular (vEDS)	Autosomal dominant	COL3A COL1A1	Collagen Type III Collagen Type I
5. Hypermobile (hEDS)	Autosomal dominant	unknown
6. Arthrochalasia (aEDS)	Autosomal dominant	COL1A1, COL1A2	Collagen Type 1
7. Dermatosparaxis (dEDS)	Autosomal recessive	ADAMTS2	ADAMTS-2
8. Kyphoscoliotic (kEDS)	Autosomal recessive	PLOD1 FKBP14	LH1 FKBP22
9. Brittle cornea syndrome (BCS)	Autosomal recessive	PRDM5 ZNF469	PRDM5 ZNF469
10. Spondylodysplastic (spEDS)	Autosomal recessive	B4GALT7 B3GALT6 SLC39A13	beta4GalT7 beta3GalT6 ZIP13
11. Musculocontractural (mcEDS)	Autosomal recessive	CHST14 DSE	D4ST1 DSE
12. Myopathic (mEDS)	Autosomal dominant/recessive	COL12A1	Collagen Type XII
13. Periodontal (pEDS)	Autosomal dominant	C1R C1S	C1r C1s

Table 1: Summary of ICD Classification of Ehlers-Danlos Syndrome subtypes

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