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Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives | Orphanet Journal of Rare Diseases | Full Text Epicanthic Fold, Superior Mesenteric Artery, Osteogenesis Imperfecta, Cross Sectional Study, Musculoskeletal Pain, Cohort Study, Ehlers Danlos, Ehlers Danlos Syndrome, Rare Disease

Background The Ehlers-Danlos syndromes (EDS) are rare connective tissue disorders consisting of 13 subtypes with overlapping features including joint hypermobility, skin and generalized connective tissue fragility. Classical EDS (cEDS) is principally caused by heterozygous COL5A1 or COL5A2 variants and rarely by the COL1A1 p.(Arg312Cys) substitution. Current major criteria are (1) skin hyperextensibility plus atrophic scars and (2) generalized joint hypermobility (gJHM). Minor criteria…

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Subglottic Stenosis, Iih Awareness, Rare Disease Day, Rare Disease Awareness, Chronic Fatigue Symptoms, Invisible Disease, Turmeric Health, I Love Someone, Ehlers Danlos

Rare Disease Awareness T-Shirt Where can I find other rare disease awareness designs? Expand or collapse section. In addition to rare disease awareness designs, you can explore the marketplace for rare disease, rare disease day, and awareness products designs sold by independent artists. What material is this item made of? Expand or collapse section. 100% combed ringspun cotton. The perfect fabric for a graphic tee and the softest in the business. (Due to product availability, cotton type…

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