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Osteogenesis imperfecta type 3
A severe type form osteogenesis imperfecta characterized by increased bone fragility and low bone mass clinically manifesting as susceptibility to bone fractures, severe short stature, a triangular face, moderate to severe scoliosis, blue or blue-grey sclera, and dentinogenesis imperfecta.
ORPHA:216812
Classification level: Subtype of disorder
- OI type 3
- Progressive deforming osteogenesis imperfecta
- Severe osteogenesis imperfecta
Source: PubMed ID 36779427
Prevalence: Unknown
Inheritance: Autosomal dominant, Autosomal recessive, X-linked recessive
Age of onset: Infancy, Neonatal
: produced/endorsed by ERN(s)
: produced/endorsed by FSMR(s)
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