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Osteogenesis imperfecta

by Alike Medical Team ∙ Updated on June 13, 2023

Additional names

This group contains additional names: - Brittle bones - Osteogenesis Imperfecta

General

Osteogenesis imperfecta (OI) is an inherited bone disorder that is present at birth. Brittle bone disease is another name for it. The bones of a child with OI may be soft and easily broken, they may not form normally, and they may have other problems. Mild to severe symptoms may be present. The disease can be classified into at least eight different types. There is a great deal of variation within and between types. Based on the type of inheritance as well as the signs and symptoms, they are classified.

33 people with Osteogenesis imperfecta

Learn from others who are experiencing Osteogenesis imperfecta.

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Signs & symptoms

The symptoms of OI vary greatly within and between types. Symptoms of OI include: Easily broken bones Bone deformities, such as bowing of the legs Discoloration of the white of the eye, may be blue or gray in color A barrel shaped chest Curved spine Face in triangle shape Loose joints Easy bruising skin Discolored teeth Muscle weakness Hearing loss

Diagnosis

Your baby may need to see a specialist in genetic conditions (geneticist) or bone disorders (orthopedist). Genetic testing. A radiograph- Many changes can be seen here, including fractures and weak or deformed bones.

Treatment

Treatment aims to prevent deformities and fractures. As your child gets older, allow him or her to function independently. Symptoms may be prevented or corrected with the following treatments: Bisphosphonate medicines. Care of fractures. Rodding. Dental procedures.

Note

☝ We provide information on prescription and over-the-counter medicines, diagnosis, procedures and lab tests. This material is provided for educational purposes only and is not medical advice, diagnosis or treatment.

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