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2021 Dec;151(12):36063616
To meet the diagnostic criteria for cvEDS, a person must meet: Major criterion 1 AND family history compatible with autosomal recessive inheritance AND at least one other major criterion OR Major criterion 1 AND family history compatible with autosomal recessive inheritance AND at least two minor criteria Major Criteria Severe progressive cardiac-valvular problems (aortic valve, mitral valve) Skin involvement: skin hyperextensibility, atrophic scars, thin skin, easy bruising Joint hypermobility (generalized or restricted to small joints) Minor criteria Inguinal hernia Pectus deformity (especially excavatum) Joint dislocations Foot deformities: pes planus, pes planovalgus, hallux valgus Classical-like EDS (clEDS) If a person meets the diagnostic criteria for clEDS, genetic testing should be done to confirm the diagnosis
