Osteogenesis imperfecta

Osteogenesis imperfecta is a group of related genetic conditions caused by a fault in the gene that codes for collagen. The faulty collagen is either destroyed by the immune system or fails to bine properly to bone resulting in the bones becoming very brittle and easily broken. It is an occasional differential diagnosis on House, M.D. There are eight recognized types of the disease running from mild to life threatening.
OI usually causes multiple problems with bones and joints. In addition, it causes the sclera of the eyes to turn a light blue. A combination of these factors is used to establish a diagnosis.
OI cannot be cured, but can be managed. Physiotherapy is used to strengthen the skeletal muscles to prevent injury and to improve mobility. Certain drugs are also useful in helping to boost bone strength. In severe cases, surgery can be performed to add steel rods directly to the bones, particularly to strengthen the spine.
Osteogenesis imperfecta at Wikipedia
Category:Genetics