Living with Osteogenesis imperfecta type 5
A moderate form of osteogenesis imperfecta with fragile bones, short stature, and overgrown bone healing tissue.
Understanding Osteogenesis imperfecta type 5
Fractures vary in severity. Other features include bone changes at birth, short stature, a dislocated forearm bone at the elbow, and extra-thick healing tissue (hyperplastic callus), especially during fast growth. Whites of the eyes are normal, and dentinogenesis imperfecta is absent. GARD lists newborn and infant years as the usual onset.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Repeated fractures
- Thin bones (osteopenia)
- Short stature
- Extra-thick healing tissue after fractures (hyperplastic callus)
- Dislocated elbow bone (radial head)
- Limited turning of the forearm
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.
- 3Consider genetic testing
Changes in IFITM5 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 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
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists)
- 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 IFITM5 gene cause this condition. GARD lists autosomal dominant and autosomal recessive inheritance.
Also known as: ifitm5 osteogenesis imperfecta; oi type 5; oi5; osteogenesis imperfecta caused by mutation in ifitm5; osteogenesis imperfecta type v; osteogenesis imperfecta, type v
Patient organizations
- Osteogenesis Imperfecta FoundationOsteogenesis imperfecta type 5 · United States
- Children's Brittle Bone FoundationOsteogenesis imperfecta type 5 · United States
You are more than your diagnosis
Perspectives from people navigating life with Osteogenesis imperfecta type 5.
Explore research for Osteogenesis imperfecta type 5
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- 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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