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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, 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
Classification level: Subtype of disorderA summary on this disease is available in Deutsch (2010) Italiano (2010) Français (2021) Nederlands (2021) Polski (2010, pdf)
Detailed information
General public
- Article for general public
- Deutsch (2015, pdf) - ACHSE
- Svenska (2023) - Socialstyrelsen
Guidelines
- Emergency guidelines
- English (2008, pdf) - Orphanet Urgences
- Español (2008, pdf) - Orphanet Urgences
- Italiano (2008, pdf) - Orphanet Urgences
- Português (2008, pdf) - Orphanet Urgences
- Français (2018, pdf) - Orphanet Urgences
- Clinical practice guidelines
- Français (2017) - PNDS
- Español (2020, pdf) - Asoc Española de Pediatría
- Anesthesia guidelines
- Czech (2019) - Orphananesthesia
- Deutsch (2019) - Orphananesthesia
- English (2019) - Orphananesthesia
Genetic Testing
- Guidance for genetic testing
- English (2012) - Eur J Hum Genet


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.