Osteogenesis Imperfecta

Osteogenesis Imperfecta (OI) is a rare genetic disorder characterized by a defect in collagen production, leading to fragile bones prone to fractures. Individuals with OI may experience varying degrees of bone deformities, short stature, and skeletal abnormalities. The severity of the condition ranges widely, from mild cases with few fractures to severe forms involving multiple fractures and significant physical disability. OI is primarily caused by mutations in the COL1A1 or COL1A2 genes, affecting collagen synthesis. Collagen is a crucial protein for bone strength and structure. Beyond skeletal manifestations, individuals with OI may exhibit blue sclerae, hearing loss, and dental issues. Management involves a multidisciplinary approach, including physical therapy, orthopaedic interventions, and medications like bisphosphonates to enhance bone density. Support from healthcare providers, genetic counselling, and patient advocacy organizations are vital for addressing the complex medical, psychological, and social aspects of OI. Ongoing research aims to improve treatment strategies and enhance the quality of life for individuals with this challenging genetic disorder.