Living with Osteogenesis imperfecta type 6
A form of osteogenesis imperfecta with fragile bones in which fractures usually start after 6 months of age.
Understanding Osteogenesis imperfecta type 6
Under a microscope, bone tissue has a distinct fish-scale pattern. People appear healthy at birth and usually do not have fractures until after 6 months of age.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Repeated fractures
- Bowed legs and arms
- Spine bone compression fractures
- Delayed motor skills
- Blue-gray tint to the whites of the eyes
- Hip socket differences
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 SERPINF1 gene may 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: oi6; osteogenesis imperfecta caused by mutation in serpinf1; osteogenesis imperfecta type vi; osteogenesis imperfecta, type vi; serpinf1 osteogenesis imperfecta; serpinf1-related osteogenesis imperfecta
Patient organizations
- Osteogenesis Imperfecta FoundationOsteogenesis imperfecta type 6 · United States
- Children's Brittle Bone FoundationOsteogenesis imperfecta type 6 · United States
You are more than your diagnosis
Perspectives from people navigating life with Osteogenesis imperfecta type 6.
Explore research for Osteogenesis imperfecta type 6
Explore actively recruiting Osteogenesis imperfecta type 6 studies with HealthSpark.
Find actively recruiting studies for Osteogenesis imperfecta type 6 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 6 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 6
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 6 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.