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Marfan syndrome is an autosomal dominant connective tissue disorder caused by mutation in the FBN1 gene on chromosome 15. Common features: Tall thin body habitus Long limbs Arachnodactyly Lens subluxation Mitral valve prolapse Aortic aneurysm The most dangerous complication is aortic dissection/rupture. Mnemonic: MARFANS M → Mitral valve ...
10.5K views2 weeks ago
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Osteogenesis Imperfecta (OI) is a rare genetic disorder that causes fragile bones that break easily, often called “brittle bone disease.” 🦴 It happens due to a defect in collagen production, affecting bone strength and growth. 💙 People with OI may also have blue sclera, hearing loss, and joint problems. #OsteogenesisImperfecta #BrittleBoneDisease #RareDisease #GeneticDisorder #BoneHealth
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