Living with Osteogenesis imperfecta type 9
A severe recessive form of osteogenesis imperfecta with fragile bones that break easily.
Understanding Osteogenesis imperfecta type 9
Connective tissues, such as bones, tendons, ligaments, and cartilage, support and connect other tissues. In this type the bones are fragile and more likely to break. It is inherited from both parents.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Multiple fractures at birth
- Repeated fractures
- Bowed limbs and long bones
- Thin bones (osteopenia, osteoporosis)
- Tooth differences (dentinogenesis imperfecta)
- Delayed motor skills
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
Your doctor may refer you to a specialist who knows rare conditions.
- 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 and Children's Brittle Bone Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- Expert care
- Expert lists: Osteogenesis Imperfecta Foundation, Children's Brittle Bone 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 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
Changes in the PPIB gene cause this condition. It is inherited in an autosomal recessive way, meaning a child inherits a changed copy of the gene from each parent.
Also known as: oi 9; oi type ix; oi9; osteogenesis imperfecta caused by mutation in ppib; osteogenesis imperfecta sillence type ii/iii without abnormality of type i collagen; osteogenesis imperfecta type ix
Patient organizations
- Osteogenesis Imperfecta FoundationOsteogenesis imperfecta type 9 · United States
- Children's Brittle Bone FoundationOsteogenesis imperfecta type 9 · United States
You are more than your diagnosis
Perspectives from people navigating life with Osteogenesis imperfecta type 9.
Explore research for Osteogenesis imperfecta type 9
Explore actively recruiting Osteogenesis imperfecta type 9 studies with HealthSpark.
Find actively recruiting studies for Osteogenesis imperfecta type 9 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
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Osteogenesis imperfecta type 9 studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Osteogenesis imperfecta type 9
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Osteogenesis imperfecta type 9 experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.