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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

These conditions may be lethal, including severe arrhythmias, thrombosis, hemorrhage, and disturbed blood pressure (e.g., intracranial hypertension, portal hypertension, caval hypertension, and aortic hypotension), commonly in advanced Virchow triad circumstances [129,130,131,132,133,134,135,136,137,138,139,140,141,142,168]

Jason Hechtman, M.D

However, we found that exposure to low BPA at 72 hpf increased cyp19a1b and decreased esr2 protein levels in adult retinal homogenates