Osteogenesis Imperfecta

What is osteogenesis imperfecta?

Osteogenesis imperfecta (OI), also known as brittle-bone disease, is a genetic and inherited disorder characterized by fragile bones that break easily without a specific cause. OI is caused by a genetic defect affecting the non-mineral part of bone. About 85 percent of defects are in collagen, the triple helix connective tissue rope that holds the mineral parts of bones together. Other more rare forms of OI affect other proteins in bone.

OI is a lifelong condition that varies greatly in severity, affecting bone quality and bone mass. The condition can also affect a child’s stature, hearing, skin, blood vessels, muscle mass (hypotonia, or poor muscle tone) and teeth (dentinogenesis imperfecta).

The disorder occurs in an estimated one out of 12,000 to 15,000 babies, and equally affects boys and girls of all races and ethnicities.

Osteogenesis imperfecta is a serious lifelong condition that needs to be managed through an interdisciplinary medical approach to maximize a child’s quality of life and ability to function. The condition presents complex challenges on anatomical, medical and socio-psychological levels. Nevertheless, children with OI can grow up to lead full, productive lives.

How we care for osteogenesis imperfecta

Depending on the severity of osteogenesis imperfecta your child's care team could include orthopedic, genetic and endocrinology specialists, as well as dentists, audiologists, physical and occupational therapists and pulmonologists.

Our Orthopedic Center has vast experience treating children with OI. As a result, we provide expert diagnosis and treatment, and care for children with every type and manifestation of the condition.

Our Orthopedic Center is one of the world’s first comprehensive pediatric orthopedic programs, and is now the largest pediatric orthopedic surgery center in the United States, performing more 5,000 procedures each year. Our program is one of the nation’s preeminent care centers for children and young adults with developmental, congenital, post-traumatic, and neuromuscular problems of the musculoskeletal system.