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Etiology Genetics COL5A1 or COL5A2 mutation in 40-50% 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 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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Thevis, M (2017)