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 |
| Collagen primary structure and/or processing | AD |
Classical-like 1 EDS (clEDS1)* | TNXB-deficient EDS |
| Myomatrix structure and function | AR |
Classical-like 2 EDS (clEDS2)*¶ |
| Collagen assembly | AR | |
Classical-like 3 EDS (clEDS3)*¶ |
| Extracellular matrix protein | AD | |
Cardiac-valvular EDS (cvEDS)* |
| Collagen primary structure and/or processing | AR | |
Vascular EDS (vEDS)* | Vascular EDS, type IV |
| Collagen primary structure and/or processing | AD |
Hypermobile EDS (hEDS) | Hypermobile EDS, type III |
| AD | |
Arthrochalasia EDS (aEDS)* | Arthrochalasia, types VIIA and VIIB |
| Collagen primary structure and/or processing | AD |
Dermatosparaxis EDS (dEDS)* | Dermatosparaxis EDS, type VIIC |
| Collagen primary structure and/or processing | AR |
Kyphoscoliotic EDS (kEDS)* | Kyphoscoliosis EDS, type VI |
| Collagen folding and crosslinking | AR |
Brittle cornea syndrome (BCS)* | Brittle cornea syndrome |
| Other intracellular processes | AR |
Spondylodysplastic EDS (spEDS)* | EDS progeroid type Spondylocheirodysplastic EDS |
| Glycosaminoglycan biosynthesis or other intracellular processes | AR |
Musculocontractural EDS (mcEDS)* | Adducted thumb Clubfoot Syndrome B3GalT6-deficient EDS EDS Kosho type |
| Glycosaminoglycan biosynthesis | AR |
Myopathic EDS (mEDS)* |
| Myomatrix structure and function | AD or AR | |
Periodontal EDS (pEDS)* | Periodontitis, type VIII |
| Complement pathway | AD |
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.