Living with Osteogenesis imperfecta type III
A progressively deforming form of osteogenesis imperfecta, often found soon after birth because of fractures.
Understanding Osteogenesis imperfecta type III
Fractures in the newborn period, even from handling, are common. Other symptoms vary a lot and may include bone malformations, short stature, dental problems, a large head, hearing loss, and blue whites of the eyes. 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:
- Multiple fractures present at birth
- Repeated fractures
- Bowed limbs
- Tooth differences (dentinogenesis imperfecta)
- Hearing impairment
- Hunched back (kyphosis)
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, eye disease specialists, genetic specialists and gum, teeth and mouth 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 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); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Gum, teeth and mouth specialists (odontologists)
- 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 COL1A1 or COL1A2 genes cause this condition. GARD lists autosomal dominant inheritance among the patterns.
Also known as: oi type 3; oi type iii; oi3; osteogenesis imperfecta type 3; osteogenesis imperfecta, progressively deforming with normal sclerae; progressive deforming osteogenesis imperfecta
Patient organizations
- Osteogenesis Imperfecta FoundationOsteogenesis imperfecta type III · United States
- Children's Brittle Bone FoundationOsteogenesis imperfecta type III · United States
You are more than your diagnosis
Perspectives from people navigating life with Osteogenesis imperfecta type III.
Explore research for Osteogenesis imperfecta type III
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- Recruiting studies from ClinicalTrials.gov
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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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