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Title
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Ehlers‑Danlos syndrome
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ImagePath
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System
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Collagen synthesis disorder
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Overview
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Connective‑tissue disorder with joint hypermobility and skin hyperextensibility.
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Pathophysiology
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Heterogeneous; defects in COL5A1/2 (classical), COL3A1 (vascular), or TNXB.
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Presentation
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Hyperextensible skin, atrophic scars, joint laxity; vascular type—arterial/organ rupture.
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Diagnosis
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Clinical criteria; genetic panel; vascular imaging.
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Management
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Physical therapy, joint protection, avoid high‑impact sports; vascular type needs routine angiography.
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Epidemiology
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Prevalence 1:5,000; variable inheritance.
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