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Osteogenesis imperfecta type 4
A moderately severe form of osteogenesis imperfecta characterized by increased bone fragility and low bone mass that clinically manifests from infancy as susceptibility to bone fractures, short stature, mild to moderate scoliosis in most, gray-blue or white sclera, and dentinogenesis imperfecta.
ORPHA:216820
Classification level: Subtype of disorder
- OI type 4
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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