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Osteogenesis imperfecta type 5
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Disease definition
A moderate form of osteogenesis imperfecta characterized by increased bone fragility and low bone mass that clinically manifests with susceptibility to bone fractures of variable severity, metaphyseal changes at birth, short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus (occurring more often during periods of more rapid growth), white sclera and absence of dentinogenesis imperfecta.
ORPHA:216828
Detailed information
: produced/endorsed by ERN(s)
: produced/endorsed by FSMR(s)
General public
Article for general public
Guidelines
Emergency guidelines
Anesthesia guidelines
Clinical practice guidelines
Genetic testing
Guidance for genetic testing
Diagnostic Keys
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
- Research project(s) (60)
- Clinical trial(s) (4)
- Biobank(s) (10)
- Registry(ies) (30)
- Network of experts (6)
Newborn screening
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