The word osteo is always related with bones and so is this one. Osteogenesis imprefecta is a group of disorders inherited which are characterized by fragile bones which might break easily. This disease is very rare and caused by a defective gene which affects the formation of collagen (protein that helps in strengthening of bones). The condition can be mild where a person can have few fractures in lifetime, but in severe cases, hundreds of fractures can occur without any cause.
Now, this disease comes with the symptoms and the symptoms are pain in the bones, bone fractures, bone tissue formation, callus, bow legs, bluish tinge of white part of eye, scoliosis, hearing loss, enlarged head, bruising, physical deformity, stiffness or short stature.
After knowing about the disease and its symptoms, you need to know about treatment also. The treatment for this disease includes physiotherapy, bone strengthening medications and orthopaedic surgery. Certain devices like orthopedic cast or splint are used for stabilizing and protecting injured joint, medications for bone health and dietary supplements can be taken, surgery like bone surgery, distraction osteogenesis, orthrognathic surgery, surgery for stabilizing broken bones can be done. Else than these, specialists like physiotherapist, orthopedic surgeon and endocrinologist can be consulted for treatments.