What is Osteogenesis Imperfecta?

A genetic disorder characterized by fragile bones that break easily, osteogenesis imperfecta (OI) is also known as “Brittle bone disease.” People are born with this disorder and it will affect them throughout their lives. OI often includes muscle weakness, hearing loss, fatigue, curved bones, scoliosis, blue sclerae, brittle teeth, and short stature and each person will encounter different medical issues depending on the degree of severity. OI is caused by a gene mutation that shapes the body’s production of the collagen in the bones and other tissues. According to the Osteogenesis Imperfecta Foundation, OI is not caused by poor nutrition or low levels of calcium.

According to the literature, there are eight types of OI. Most people with OI have a mutation to the type 1 collagen genes, while others may have OI that is caused by mutations to the cartilage associated protein gene or the LEPRE1 gene. OI occurs equally between genders and racial and ethnic groups. The initial diagnosis of OI is based on a doctor’s examination. Genetic testing is available to confirm a diagnosis of OI. Treatments focus on minimizing fractures, maximizing mobility, and maximizing independent function and general health, and may include physical therapy and safe exercise (such as swimming), casts/splints/wraps for broken bones, braces to support legs/ankles/knees/wrists, orthopedic surgery, medications to strengthen bones, and mobility aids.

The NIDRR funded Rehabilitation Engineering Research Center on Technologies for Children with Orthopedic Disabilities (H133E100007) conducts research and development projects that address the needs of children with orthopedic disabilities, including OI. NARIC’s collection includes articles from this NIDRR project on OI. These articles include:

  • 3D micron-scale imaging of the cortical bone canal network in human osteogenesis imperfecta (OI). NARIC Accession Number: O18894.
  • Analysis of push-off power during locomotion in children with type 1 osteogenesis imperfecta. NARIC Access Number: J65286.
  • Storage and loss moduli of bone in osteognesis imperfecta (OI). NARIC Accession Number: O18895.

To learn more, you can contact NARIC’s information specialists via chat, phone: 800/346-2742, or email. You can also learn more through the Osteogenesis Imperfecta Foundation. You can also help raise awareness about OI through Wishbone Day, which is celebrated every year on May 6th.

About mpgarcia

I'm the Bilingual Information/Media Specialist at NARIC.
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