Clinical subtype | Old nomenclature | Genetics/inheritance | Predominant features |
Classical EDS (cEDS) | Classical EDS, types I and II | COL5A1, COL5A2, rarely COL1A1 Autosomal dominant |
|
Classical-like EDS (clEDS) | TNXB-deficient EDS | TNXB Autosomal recessive |
|
AEBP1 Autosomal recessive |
| ||
Cardiac-valvular EDS (cvEDS) | COL1A1 Autosomal recessive |
| |
Vascular EDS (vEDS) | Vascular EDS, type IV | COL3A1 Autosomal dominant |
|
Hypermobile EDS (hEDS) | Hypermobile EDS, type III | Unknown Autosomal dominant |
|
Arthrochalasia EDS (aEDS) | Arthrochalasia, types VIIA and VIIB | COL1A1, COL1A2 Autosomal dominant |
|
Dermatosparaxis EDS (dEDS) | Dermatosparaxis EDS, type VIIC | ADAMTS2 Autosomal recessive |
|
Kyphoscoliotic EDS (kEDS) | Kyphoscoliosis EDS, type VI | PLOD1 FKBP14 Autosomal recessive |
|
Brittle cornea syndrome (BCS) | Brittle cornea syndrome | ZNF469 PRDM5 Autosomal recessive |
|
Spondylodysplastic EDS (spEDS) | EDS progeroid type Spondylocheirodysplastic EDS | B4GALT7 B3GALT6 SLC39A13 Autosomal recessive |
|
Musculocontractural EDS (mcEDS) | Adducted thumb Clubfoot Syndrome B3GalT6-deficient EDS EDS Kosho type | CHST14 DSE Autosomal recessive |
|
Myopathic EDS (mEDS) | COL12A1 Autosomal dominant or recessive |
| |
Periodontal EDS (pEDS) | EDS periodontitis, type VIII | C1R C1S Autosomal dominant |
|
EDS: Ehlers-Danlos syndromes.
* Refer to UpToDate topic review on clinical manifestations and diagnosis of Ehlers-Danlos syndromes and Malfait F, Francomano C, Byers P, et al for complete details about the diagnostic criteria.Modified 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(1):8-26. https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.c.31552. Copyright © 2017. Reproduced with permission of John Wiley & Sons Inc. This image has been provided by or is owned by Wiley. Further permission is needed before it can be downloaded to PowerPoint, printed, shared or emailed. Please contact Wiley's permissions department either via email: permissions@wiley.com or use the RightsLink service by clicking on the 'Request Permission' link accompanying this article on Wiley Online Library (http://onlinelibrary.wiley.com).
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