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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
High bone mass osteogenesis imperfecta?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
The Chandler Project
The Chandler Project (TCP) provides those affected with achondroplasia, and other forms of skeletal dysplasia (dwarfism), with the latest in pharmaceutical research and surgical advancements.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
For a list of clinical trials in this disease area, please click here.