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Osteogenesis imperfecta type 5
rareOsteogenesis 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).
- Identifiers
- MONDO:0012591 OMIM:610967Orphanet:216828
- Causal genes
- IFITM5
- Also known as
- IFITM5 osteogenesis imperfecta · OI type 5 · OI type V · OI with calcification in interosseous membranes · OI5
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