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Hypermobile Syndrome The 1998 Revised Brighton Criteria Major Diagnostic Criteria Thin translucent skin Extensive bruising Characteristic facial appearance Organ rupture Inheritance: Autosomal dominant Genetic cause: COL3A1 (type III collagen) Incidence: 1 in 15,000--20,000 VascularEDS VascularEDSClinical presentation Purpura Massive internal bleeding Spontaneous bowel rupture Peripartum uterine hemorrhage VascularEDS Associated Features Acrogeria Hypermobility of small joints Tendon and muscle rupture Talipesequinovarus (clubfoot) Early-onset varicose veins Arterio-venous fistula Major Criteria Generalized joint laxity severe muscle hypotonia Kyphoscoliosis, usually usually early onset Scleral fragility Inheritance: Autosomal recessive Genetic cause: PLOD1 Kyphoscoliosis Type (EDS VI) Type VIA Two mutations in PLOD1 (lysyl hydroxylase gene) Type VIB No mutation in PLOD1 Some feel that this is Brittle Cornea Syndrome Also known as: Musculocontractural Adducted thumb clubfoot Kosho type D4ST1 deficient EDS Will it remain VIB or another form altogether

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