|
| EDS subtypes (former type) | Inheritance | Major symptoms | Genes |
|
| Classic (I/II) | AD | Skin hyperextensibility
Widened atrophic scars | COL5A1/COL5A2
COL1A1 |
| AR | Joint hypermobility, muscle weakness, and distal contractures | TNX-B |
| Hypermobility (III) | AD | Generalized hypermobility and subtle skin findings | ? |
| Vascular (IV) | AD | Arterial and hollow organ rupture at a young age | COL3A1 |
| Vascular-like | AD | Features of both classic and vascular types | COL1A1 |
| Cardiac-valvular | AR | In childhood: mild skin, joint hypermobility, hypotonia, and osteopenia. In adulthood: severe valve disease | COL1A2 |
| EDS with periventricular heterotopia | XLR | Nodular brain heterotopia and classic EDS symptoms | FLNA
ARFGEF2 |
| Kyphoscoliotic (VIa) | AR | Early progressive kyphoscoliosis | PLOD1 |
| Musculocontractural (VIb) | AR | Craniofacial abnormalities, joint contracture, hypotonia, and GI/GU problems | CHST14 |
| Arthrochalasis (VIIa/VIIb) | AD | Congenital bilateral hip dislocation | COL1A1/COL1A2 |
| Dermatosparaxis (VIIc) | AR | Sagging skin, delayed fontanels closure, eye lid edema, and short stature and fingers. | ADAMTS2 |
| Periodontal (VIII) | AD | Severe early-onset periodontitis | 12p13 |
| Occipital horn syndrome (IX) | XLR | Loose skin, delayed intelligence, hernias, twisted blood vessels, dysautonomia, and hair abnormalities. | ATP7A |
| Spondylocheirodysplastic | AR | Short stature and mild skeletal dysplasia | SLC39A13 |
| EDS-Stickler | AR | Pierre-Robin sequence and eye abnormalities. | PLOD3 |
| EDS-OI | AD | Bone fragility and classic EDS symptoms | COL1A1/COL1A2 |
| Brittle cornea syndrome | AR | Ocular fragility and keratoconus | ZNF469
PRDM5 |
| Progeroid EDS | AR | Wrinkled face, curly fine hair, and periodontitis | B4GALT7 |
|
