| Hypermobile Ehlers-Danlos Syndrome (hEDS)—Formerly known as EDS, Hypermobile Type, or EDS Type III. |
Generalized joint hypermobility Musculoskeletal involvement (arthralgia, instability) Involvement of other organ systems (skin, Marfanoid features, etc.) No consistently associated gene mutations |
| Classical Ehlers-Danlos Syndrome (cEDS)—Also known as EDS Type I. |
Skin hyperpextensibility and atrophic scarring Generalized joint hypermobility Minor features: e.g., easy bruising, skin fragility, hernias, etc. Associated gene mutations: COL1A1, COL5A1, and COL5A2 |
| Generalized Hypermobility Spectrum Disorder (G-HSD) - Formerly known as “non-benign” JHS. |
Generalized joint hypermobility Musculoskeletal involvement (arthralgia, instability) Other minor criteria associated with hEDS may be present but to a comparatively lesser extent |
| * Joint Hypermobility Syndrome (JHS)—Divided into “benign” and “non-benign” forms. Diagnosis now in disuse as of 2017. |
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| Hypermobility Spectrum Disorders (HSD) |
Composed of:
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| Asymptomatic Joint Hypermobility |
Asymptomatic Generalized Joint Hypermobility (A-GJH) (formally known as “benign” JHS) Asymptomatic Peripheral Joint Hypermobility (A-PJH) Asymptomatic Localized Joint Hypermobility (A-LJH) |
| Marfan Syndrome (MFS) |
Aortic root dilation Ectopia lentis (dislocated lenses of the eye) Minor features: Marfan habitus, generalized joint hypermobility Associated gene mutations: FBN1 |
| Loeys-Dietz Syndrome (LDS) |
Enlargement of the aorta Aneurysms Hypertelorism Bifid uvula or cleft palate Minor features: Marfanoid habitus, immune disorders (allergy, asthma, rhinitis, eczema) Associated gene mutations: TGFBR1, TGFBR2, SMAD3, TGFB2, and TGFB3 |
