High bone mass osteogenesis imperfecta
Synonyms: High bone mass OI
High bone mass osteogenesis imperfecta is a rare genetic primary bone dysplasia disorder characterized by increased bone fragility manifesting with multiple childhood-onset vertebral and peripheral fractures associated with increased bone mass density on radiometric examination. Patients typically present normal or mild short stature and dentinogenesis hearing and sclerae are commonly normal.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
Newly diagnosed with
High bone mass osteogenesis imperfecta?
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Advocacy Organizations
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
The Chandler Project
The Chandler Project brings awareness and shines a light on transformative research surrounding achondroplasia and other skeletal dysplasias by offering support to a global community and network of patients, parents, and caregivers seeking information on scientific discoveries, pharmaceutical advancements and surgical treatment options.
Clinical Trials
For a list of clinical trials in this disease area, please click here.