Osteogenesis Imperfecta (OI), commonly known as “brittle bone” disorder is a genetic disorder characterized by bones that break easily, often with little cause. People with OI may also have teeth problems (dentinogenesis imperfecta), and hearing loss when they are adults. People who have OI may also have muscle weakness, loose joints (joint laxity) and skeletal malformations.
An organization founded and managed by people with osteogenesis impertfecta and parents of people with OI. The Foundation publishes “Breakthrough” (a quarterly newsletter); provides literature and videos upon request; holds national conferences, local and regional meetings; has a peer contact network; and accepts contributions to support education, awareness, and research. They have a OI information center.
804 West Diamond Avenue, Suite 210
Gaithersburg, MD 20878
Phone: 301-947-0083 or (844) 889-7579
Massachusetts support: 508-292-0562 (South Shore Group)
Email: bonelink@oif.org
Medline Plus: Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones.
Boston Children’s Hospital: OI is usually diagnosed in infancy or early childhood. To diagnose your child’s OI, the doctor conducts a physical exam. During the exam, the doctor takes your child’s complete prenatal, birth and family medical history.
Learning About Osteogenesis Imperfecta
National Human Genome Research Institute: Osteogenesis imperfecta is a genetic disorder that causes a person’s bones to break easily, often from little or no apparent trauma.
American Academy of Orthopedic Surgeons Ortho Info. OI is a relatively rare condition. Some people have a more severe form of the disorder in which their bones break easily. They may break hundreds of bones during their lives. Many people, however, have a milder form of OI and go through life with few breaks.
Nemours KidsHealth info: Osteogenesis imperfecta (OI) is a genetic disorder that prevents the body from building strong bones. That’s why it’s also called brittle bone disease.
Fact Sheet last updated on: 8/26/2024
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