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Osteogenesis imperfecta type 3

rare

Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI).

Identifiers
MONDO:0009804 OMIM:259420Orphanet:216812
Part of
Osteogenesis imperfecta and a reduction of bone mineral density.
Also known as
OI type 3 · OI type III · OI3 · osteogenesis imperfecta type III · osteogenesis imperfecta, progressively deforming with normal sclerae

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