Oestegenesis Imperfecta
Osteogenesis imperfecta (OI) is a genetic disorder in which bones break easily. Sometimes the bones break for no known reason. OI can also cause weak muscles, brittle teeth, a curved spine, and hearing loss. OI is caused by one of several genes that aren't working properly. When these genes don't work, it affects how you make collagen, a protein that helps make bones strong. OI can range from mild to severe, and symptoms vary from person to person. A person may have just a few or as many as several hundred fractures in a lifetime. No single test can identify OI. Your doctor uses your medical and family history, physical exam, and imaging and lab tests to diagnose it. Your doctor may also test your collagen (from skin) or genes (from blood). There is no cure, but you can manage symptoms. Treatments include exercise, pain medicine, physical therapy, wheelchairs, braces, and surgery.
Not only it affects your muscoskeletal system, but also can result in heart or aorta deformities, and possibily pneumothorax due to rips in the lungs. Thats the major cause of mortality in severe cases.
and the eye(blue tranparent sclera), Middle ear (hear loss), teeth abnormal shape
I have OI and have lived a pretty healthy life, I’ve broken multiple bones, but i have had a baby and have played many contact sports
I worked on a bone metabolism research unit and osteogenesis imperfecta was one of the things we studied. We had a child who broke a bone peddling a big wheel. There is a huge range as far as deformities and ease of fracture. Those kids were really interesting.
