What is Osteogenesis Imperfecta? | Causes, Symptoms, Diagnosis & Treatment
What is Osteogenesis Imperfecta? | Causes, Symptoms, Diagnosis & Treatment Osteogenesis Imperfecta (OI) , also known as brittle bone disease , is a rare genetic disorder that affects the body's ability to produce strong, healthy bones. People with OI have bones that break easily, often with little or no apparent cause. It is a lifelong condition with varying degrees of severity. 🔬 Definition Osteogenesis Imperfecta is a group of inherited disorders characterized by fragile bones that break easily . The term "osteogenesis imperfecta" literally means “imperfect bone formation.” 🧬 Causes of Osteogenesis Imperfecta Osteogenesis imperfecta is usually caused by a mutation in the COL1A1 or COL1A2 genes , which are responsible for producing type I collagen , a crucial protein that provides strength and structure to bones and connective tissues. Inheritance Pattern : Most cases are inherited in an autosomal dominant manner (one copy of the mutated gene is enough ...