Living with Osteogenesis imperfecta type I
The mildest form of osteogenesis imperfecta, with bone fractures in childhood and a blue-gray tint to the whites of the eyes.
Understanding Osteogenesis imperfecta type I
Fractures during childhood and adolescence often result from minor injuries, and occur less often in adulthood. People often have a blue or gray tint to the whites of the eyes and may develop hearing loss in adulthood. They are usually of normal or near normal height. GARD lists childhood as the usual onset.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Repeated fractures
- Increased susceptibility to fractures
- Blue-gray tint to the whites of the eyes
- Very flexible finger joints
- Hip dysplasia
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 and genetic specialists.
- 3Consider genetic testing
Changes in COL1A1 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); Eye disease specialists (ophthalmologists); 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
Most cases are caused by changes in the COL1A1 gene, which reduce the amount of type I collagen the body makes. It is inherited in an autosomal dominant way, meaning one changed copy of the gene can be enough.
Also known as: adair-dighton syndrome; classic non-deforming osteogenesis imperfecta with blue sclerae; col1a1-related osteogenesis imperfecta; lobstein's disease; mild osteogenesis imperfecta; non-deforming osteogenesis imperfecta
Patient organizations
- Osteogenesis Imperfecta FoundationOsteogenesis imperfecta type I · United States
- Children's Brittle Bone FoundationOsteogenesis imperfecta type I · United States
You are more than your diagnosis
Perspectives from people navigating life with Osteogenesis imperfecta type I.
Explore research for Osteogenesis imperfecta type I
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