- The Еhlеrѕ-Daոlοѕ syndromes (ΕDЅ) are a group of conditions that are characterized by one or more of several common features: skin hyperextensibility, joint hypermobility, and tissue fragility. The conditions are distinguished by family history and clinical criteria, including the degree and nature of involvement of skin, joints, skeleton, and vasculature
- While the genetic basis for most types of ΕDS has been defined, the most common form, hypermobile ЕDЅ (hEDS), remains elusive to molecular diagnosis. Genetic testing is therefore used to confirm the diagnosis for all but the hypermobile ΕDS (hEDS).
| Clinical subtype | Old nomenclature | Gene (encoded protein) | Type of process affected by pathogenic variant | Inheritance |
|---|---|---|---|---|
| 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 |