Osteogenesis imperfecta (OI), also known as brittle bone disease, is a genetic disorder that affects the bones. People with OI have bones that break easily, often with no obvious cause or minimal injury. The condition is caused by a mutation or change in a gene that affects the bodys ability to make collagen, a protein that is a major component of the connective tissues in bones. There are several types of OI, ranging from mild to severe, with varying symptoms. Some of the common symptoms of OI include:

• Frequent bone fractures, often with no apparent cause
• Soft bones that may not form normally
• Bone deformities and pain
• Bruising easily
• Difficulty breathing
• Hearing loss
• Loose joints or muscle weakness
• Curved spine
• Small stature
• Triangular face shape
• Weak, brittle or discolored teeth

Treatment for OI focuses on preventing deformities and fractures, and may include medications, physical therapy, and surgery. The condition is lifelong, and management requires a multidisciplinary approach involving a team of healthcare professionals.