Osteogenesis imperfecta type 5
Osteogenesis imperfecta type 5
Definition
Osteogenesis imperfecta type V is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures with variable severity. OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis imperfecta (DI).
Also known as IFITM5 osteogenesis imperfecta, OI type 5, OI5, osteogenesis imperfecta caused by mutation in IFITM5 — per MONDO