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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 216828
Osteogenesis imperfecta type V is a moderate type of osteogenesis imperfecta (OI; see this term), 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; see this term).
To date 47 cases have been reported.
The causal gene for OI type V is not known
A clinically similar but histologically different type of OI type V (sometimes described as OI type VI) has been described and is thought to be autosomal recessive but the causal gene is not known.
Transmission is thought to be autosomal dominant.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
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