Table: Ehlers-Danlos Syndromes
| Type | Revised Classification | Clinical Features | Inheritance | Molecular Defect | Testing |
| I:Gravis | Classical type | Soft, velvety, hyperextensible skin;easy bruising; "cigarette paper" scarsprematurity | AD | COL5A1, COL5A2 mutations | COL5A1 and COL5A2 sequencing studies (not available in CDL) |
| II: Mitis | Classical type | Similar to EDS type I but less severeSoft, hyperextensible skin, joint hypermobility, bruising, normal scar formation | AD(AR, rare)AR | COL5A1, COL5A2 mutations | COL5A1 and COL5A2 sequencing studies (not available in CDL) |
| III: Familial hypermobility | Hypermobility type | Soft skin, no scarring, marked large and small joint hypermobility | AD | Not known(Rare: COL3A1 G637S) | None |
| IV: Arterial | Vascular type | Thin, translucent skin with visible veins; marked bruising; skin and jointshave normal extensibility; arterial, bowel and uterine rupture. | AD | COL3A1 mutations | 1. Collagen screening of cultured fibroblasts; mutation identification for patients with positive protein studies. 2. COL3A1 genomic DNA testing. |
| V: X-linked | Removed to "Other" category | Similar to EDS type II | XLR | Not known | None |
| VI: Ocular | Ocular-scoliotic type | Soft, velvety, hyperextensible skin;hypermobile joints, scoliosis; ocular fragility and keratoconus | AR | PLOD1 gene mutations | Urinary pyridinoline cross-links screening. (not avail in CDL) |
| VII: A and B Arthrochalasis multiplex congenita C: Dermatosparaxis | Arthrochalasia type | Congenital hip dislocation, joint hypermobility; soft skin with normalscarringVery soft, fragile, bruisable skin, marked joint hypermobility, blue sclerae, small jaw, hypertrichosis | AD AR | A: COL1A1 exon 6 splice site mutations; B: COL1A2 exon 6 splice site mutations C: PNPI gene mutations | Collagen screening of cultured fibroblasts identifies EDS VIIA, EDS VIIB and EDS VIIC. Targeted molecular testing of COL1A1/2 exon 6. |
| VIII: Periodontal | Removed to "other category" | Generalized periodontitis; skin similar to EDS type II | AD | Not known | None |
| IX: X-linked cutis laxa; occipital horn syndrome | Removed from EDS phenotypes | Soft, extensible, lax skin; bladder diverticulae and rupture; short arms, limited pronation and supination, broad clavicles, occipital horns | XLR | ATP7A gene mutations, allelic to Menkes syndrome | Serum copper and ceruloplasm studies. (not available in CDL) |
| X: Fibronectin defect | Removed to "other" category | Similar to EDS type II | AR | Defect in fibronectin | None |