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Osteogenesis Imperfecta (OI)
Osteogenesis imperfecta means “imperfect bone formation” and is commonly known as “brittle bone disease” or OI. It is a rare genetic disorder that affects the protein collagen, which is found in bone, teeth, skin, tendons, and parts of the eye. People with osteogenesis imperfecta have bones that can break easily, sometimes with no obvious cause. NICHD research has been instrumental in discovering the genes that cause some types of OI. The institute continues to conduct and support research on many aspects of OI, including genetics and treatment.
General Information
OI, or “brittle bone disease,” is a condition causing fragile bones that break easily.
OI is caused by defects in or related to a protein called type 1 collagen. Collagen is an essential building block of the body, used to make bones strong and to build tendons, ligaments, and teeth.
Infants with recognizable OI make up about 1 in every 16,000 to 20,000 births. The incidence rate is similar in people with milder forms of OI that become apparent later in life.
All types of OI have some degree of bone fragility and fracturing, and many have some degree of bone deformity.
If OI is moderate or severe, healthcare providers usually diagnose it during prenatal ultrasound. If OI is milder, parents or healthcare providers may notice symptoms in infants or children.
OI treatments are designed to prevent or control symptoms and may include fracture care, physical therapy, bracing, surgery, and medication.
Research
NICHD conducts and supports research on Osteogenesis Imperfecta and on many disorders associated with Osteogenesis Imperfecta.
Find a Study
NICHD conducts and supports a variety of clinical research projects related to osteogenesis imperfecta.
More Information
Find answers to other common questions about Osteogenesis Imperfecta, such as whether it is linked to cancer and what pregnant people need to know.
Links to websites of groups that study or provide information about Osteogenesis Imperfecta.
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