Osteogenesis imperfecta (io)

Osteogenesis imperfecta (OI) is a hereditary osteoporotic syndrome, characterized by multiple fractures due to osteoporosis and excessive bone fragility. It is also known as brittle bone disease or Lobstein syndrome. Osteogenesis imperfetca congenita is a severe form or fatal type. It is caused by deficiency of type I collagen. Most cases are caused by mutations in the COL1A1 and COL1A2 genes. It is manifested with hearing loss Brittle teeth, Short stature, spinal curvature and sometimes barrel-shaped rib cage, Triangular, Loose joints (double jointed), Poor muscle tone in arms and legs. Medication, Immobilization of affected part and exercise are important to decrease the risk of future fractures.