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