Osteogenesis Imperfecta (OI)

Genetic & Rare

Overview
Symptoms
Research
Resources
Stories & Profiles

Overview

Osteogenesis imperfecta, commonly known as brittle bone disease, is a genetic disorder that makes bones extremely fragile and prone to breaking.

At A Glance

Genetic & Rare condition Genetic condition

Common Signs And Symptoms

Brittle Bones
Bone Pain And Deformities
Blue Or Gray Sclerae The Whites Of Eyes
Weak Or Brittle Teeth
Difficulty Breathing
Hearing Loss

People with osteogenesis imperfecta may experience a variety of symptoms including:

Diagnosis Journey

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

Family and Medical HistoryReviewing 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-RaysIndicate bone weakness, deformities, and fractures.Bone Density ScansThese scans, including the Dual Energy X-ray Absorptiometry Scan (DXA or DEXA), evaluate bone mass, density, and signs of softening.Blood TestsDetect genetic mutations linked to OI.Skin BiopsyEvaluate the quality and structure of collagen, which is the protein that gives bones their structure.

Treatment Options

Treatments to help manage OI include:

01MedicationsMedication aims to strengthen bones, lower the risk of fractures, and help manage pain.
02Assistive DevicesMobility can be supported with devices such as wheelchairs, braces, walkers, canes, crutches, and other custom-made equipment.
03Occupational TherapySupport the development of skills needed to manage everyday activities.
04Physical TherapyFocuses on strengthening bones and muscles through a variety of low-impact exercises.
05Oral and Dental CareRegular dental checkups to monitor and manage any potential tooth or jaw issues.
06Pulmonary CareProvides support for managing breathing difficulties.
07SurgeryRodding surgery involves inserting a metal rod along the length of a long bone to stabilize it, correct deformities, and provide structural support.

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

There are approximately 93 OI research studies that are actively recruiting participants. Visit ClinicalTrials.gov to find OI research studies near you.

Research & Resources

Clinical research helps scientists learn more about Osteogenesis Imperfecta (OI) and develop better treatments for the future.