Living with Osteogenesis imperfecta type 7
A severe recessive form of osteogenesis imperfecta with fragile bones and fractures present at birth.
Understanding Osteogenesis imperfecta type 7
GARD lists multiple fractures present at birth, bowed legs, short upper limbs, curved spine, and extra small bones in the skull sutures among its features.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Multiple fractures at birth
- Repeated fractures
- Bowed legs
- Short upper arms and thighs
- Curved spine (scoliosis)
- Blue-gray tint to the whites of the eyes
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
GARD doesn't list a specific gene. It is inherited in an autosomal recessive way, meaning a child inherits a changed copy of the gene from each parent.
Also known as: crtap osteogenesis imperfecta; crtap-related osteogenesis imperfecta; oi type 2b; oi type 7; oi type iib; oi type vii
Patient organizations
- Osteogenesis Imperfecta FoundationOsteogenesis imperfecta type 7 · United States
- Children's Brittle Bone FoundationOsteogenesis imperfecta type 7 · United States
You are more than your diagnosis
Perspectives from people navigating life with Osteogenesis imperfecta type 7.
Explore research for Osteogenesis imperfecta type 7
Explore actively recruiting Osteogenesis imperfecta type 7 studies with HealthSpark.
Find actively recruiting studies for Osteogenesis imperfecta type 7 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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