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Etiology Genetics COL5A1 or COL5A2 mutation in 40-50% important in proper assembly of skin matrix collagen fibrils and basement membrane less common mutations identified below Associated conditions Connective tissue disorder characterized by hyperelastic/fragile skin joint hypermobility and dislocation generalized ligamentous laxity poor wound healing early onset arthritis additional features soft tissue and bone fragility soft tissue calcification mitral valve prolapse aortic root dilatation developmental dysplasia of the hip clubfoot pes planus scoliosis high palate gastroparesis Classification Berlin Classification (1988) - revised Types I - XI exist Types II and III - most common and least disabling Villefranche Classification (1998) Presentation Symptoms double-jointedness easily damaged, bruised, & stretchy skin easy scarring & poor wound healing increased joint mobility, joint popping, early arthritis especially shoulders, patellae, ankles chronic musculoskeletal pain (50%) Physical exam a score of 5 or more on 9-point Beighton-Horan scale defines joint hypermobility

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Jensen KV, Frid M, Stdberg T, Barbaro M, Wedell A, Christensen M, et al

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