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Osteogenesis Imperfecta (OI)

Osteogenesis imperfecta is a genetic disorder that makes bones extremely fragile and prone to breaking.

Symptoms
Condition Types
Diagnosis Journey
Treatment Options

Brittle bones

Bone pain and deformities

Blue or gray sclerae (the whites of eyes)

Weak or brittle teeth

Difficulty breathing

Hearing loss

Learn more about how people can be diagnosed with osteogenesis imperfecta.

  • Family and Medical History: Reviewing family and medical history is an important step in diagnosing OI because it can show whether the condition runs in the family and help doctors understand its possible genetic causes.
  • Physical Exam: Examine physical signs of OI, including fractures, dental issues, a blue tint in the whites of the eyes, loose joints, and hearing problems.
  • X-Rays: Indicate bone weakness, deformities, and fractures.
  • Bone Density Scans: These scans, including the Dual Energy X-ray Absorptiometry Scan (DXA or DEXA), evaluate bone mass, density, and signs of softening.
  • Blood Tests: Detect genetic mutations linked to OI.
  • Skin Biopsy: Evaluate the quality and structure of collagen, which is the protein that gives bones their structure.

Treatments to help manage OI include: 

  • Medications: Medication aims to strengthen bones, lower the risk of fractures, and help manage pain.
  • Assistive Devices: Mobility can be supported with devices such as wheelchairs, braces, walkers, canes, crutches, and other custom-made equipment.
  • Occupational Therapy: Support the development of skills needed to manage everyday activities.
  • Physical Therapy: Focuses on strengthening bones and muscles through a variety of low-impact exercises.
  • Oral and Dental Care: Regular dental checkups to monitor and manage any potential tooth or jaw issues.
  • Pulmonary Care: Provides support for managing breathing difficulties.
  • Surgery: Rodding surgery involves inserting a metal rod along the length of a long bone to stabilize it, correct deformities, and provide structural support.

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Ongoing Research

Osteogenesis imperfecta is a rare disease that requires more effective treatment options. To find these new treatments for OI, further research is necessary.

Current Research Studies

Discover our featured study below for osteogenesis imperfecta. If this study is not right for your child, there are approximately 15 OI research studies that are actively recruiting participants. Visit ClinicalTrials.gov to find OI research studies near you.

Featured Study

Osteogenesis Imperfecta (OI) | Clinical Study

A clinical study for children and adolescents with osteogenesis imperfecta (OI). If your child or a loved one has OI, they may be eligible for this study, which is evaluating if an investigational medication, romosozumab, may be a potential therapy for osteogenesis imperfecta.

Learn More

Resources

Find an online community of fellow patients, caregivers, and advocates below as
as well as some other general resources!

Community Groups
Advocacy Groups
Podcasts & Websites
Mental Health Resources
Research Articles
r/BrittleBones
A Reddit community to support people with osteogenesis imperfecta.
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Osteogenesis Imperfecta (OI) Community Forum
A supportive community group where individuals affected by osteogenesis imperfecta can connect, share experiences, and support one another in an engaging and interactive environment.
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Osteogenesis Imperfecta
A community group for anyone living with osteogenesis imperfecta or impacted by it in any way. This is a welcoming space to ask questions, share concerns, and connect with others who understand.
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The Osteogenesis Imperfecta Foundation
The Osteogenesis Imperfecta Foundation, Inc. focuses on supporting individuals living with osteogenesis imperfecta.
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Children’s Brittle Bone Foundation
The Children's Brittle Bone Foundation is dedicated to funding research for osteogenesis imperfecta and supporting programs that enhance quality of life and increase awareness.
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OIF Podcast Series
Listen to the Osteogenesis Imperfecta Foundation’s podcast series to learn about research studies and other educational topics related to OI.
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Probably Genetic
Explore this program created by Probably Genetic to support the OI community. Designed with patients and families in mind, the platform offers easy access to specialist and treatment explainers, clinical trial information, and live support from an OI specialist team.
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Mental Health and Wellbeing
Visit this website to discover resources for developing skills to manage stress and mental health when living with or caring for someone with OI.
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Facts about Osteogenesis Imperfecta and Filing for Disability
Visit this website to learn more about qualifying for disability benefits with OI.
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Mutated Bone Stem Cells Caught in a Loop Leading to Osteogenesis Imperfecta Type V
Read this article to explore a study that revealed a mutation contributing to the brittle bones seen in osteogenesis imperfecta.
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Ultragenyx Receives Breakthrough Therapy Designation for Setrusumab (UX143) in Osteogenesis Imperfecta
Visit this article to learn more about a new treatment aimed at reducing the risk of fractures in patients with osteogenesis imperfecta (OI) Type I, III, or IV, ages 2 and older.
Learn More

Related Articles

Patient Stories
Investigator Profiles
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