Living with High bone mass osteogenesis imperfecta
A rare genetic bone condition with fragile bones and fractures starting in childhood, even though bone density is high.
Understanding High bone mass osteogenesis imperfecta
It causes many fractures in the spine and other bones, starting in childhood. Bone density is increased on imaging. People usually have normal or mildly short height. Teeth, hearing, and the whites of the eyes are commonly normal.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Its summary describes:
- Fragile bones
- Fractures in the spine
- Fractures in other bones
- Increased bone density on imaging
- Normal or mildly short height
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Osteogenesis Imperfecta Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists)
- Expert care
- Expert lists: Osteogenesis Imperfecta Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Osteogenesis Imperfecta Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in genes (also called variants) cause this condition. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it.
Also known as: high bone mass oi
Patient organizations
- Osteogenesis Imperfecta FoundationHigh bone mass osteogenesis imperfecta · United States
You are more than your diagnosis
Perspectives from people navigating life with High bone mass osteogenesis imperfecta.
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- Eligibility is confirmed by the study team
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