Living with Osteogenesis imperfecta
A group of genetic conditions that make bones weak and easy to break, ranging from mild to severe.
Understanding Osteogenesis imperfecta
Bones may break from mild injury or with no clear cause. Some people have only a few fractures in their lives, while in severe cases fractures can occur even before birth. There are at least 19 recognized forms. Type I is the mildest, and milder forms often bring blue or gray tints to the whites of the eyes and hearing loss in adulthood. GARD lists onset as any time in life.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Bones that break easily
- Bone pain
- Abnormal shape of long bones
- Tooth differences
- Curved or flattened spine bones
- Bad bite (dental malocclusion)
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, Children's Brittle Bone Foundation and Little People of America 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, Children's Brittle Bone Foundation, Little People of America
- 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 and other patient organizations
- 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
GARD says changes in genes cause this condition. It can be inherited in autosomal dominant, autosomal recessive, or X-linked ways, depending on the form.
Also known as: brittle bone disease; brittle bone syndrome; col1a1/2-related osteogenesis imperfecta; fragilitas ossium; glass bone disease; lobstein disease
Patient organizations
- Osteogenesis Imperfecta FoundationOsteogenesis imperfecta · United States
- Children's Brittle Bone FoundationOsteogenesis imperfecta · United States
- Little People of AmericaOsteogenesis imperfecta · United States
You are more than your diagnosis
Perspectives from people navigating life with Osteogenesis imperfecta.
Explore research for Osteogenesis imperfecta
Explore actively recruiting Osteogenesis imperfecta studies with HealthSpark.
Find actively recruiting studies for Osteogenesis imperfecta with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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