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Osteogenesis imperfecta type 5
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, short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and absence of dentinogenesis imperfect.
ORPHA:216828
Classification level: Subtype of disorderDetailed information
Article for general public
Professionals
- Summary information
- Polski (2010, pdf)
- Emergency guidelines
- Français (2018, pdf)
- English (2008, pdf)
- Español (2008, pdf)
- Italiano (2008, pdf)
- Português (2008, pdf)
- Anesthesia guidelines
- English (2019, pdf)
- Clinical practice guidelines
- Français (2016, pdf)
- Guidance for genetic testing
- English (2012)
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.