What is osteogenesis imperfecta?
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What is Osteogenesis Imperfecta? | Causes, Types, Symptoms & Treatment Osteogenesis Imperfecta (OI) , also known as “brittle bone disease,” is a rare genetic disorder characterized by fragile bones that break easily , often with little or no trauma. It affects the production of collagen , a key protein that provides strength and structure to bones and connective tissues. What is Osteogenesis Imperfecta? Osteogenesis Imperfecta is a hereditary connective tissue disorder . It primarily affects the bones but may also involve the teeth, skin, ligaments, and eyes . The condition is caused by mutations in genes—mostly COL1A1 or COL1A2 —that control the production of type I collagen . As a result, bones become brittle, leading to frequent fractures and skeletal deformities. Types of Osteogenesis Imperfecta There are at least eight recognized types of OI, varying from mild to severe. Here's a simplified breakdown: Type Description Severity Type I Most...