Osteogenesis imperfecta (OI) is an inherited (genetic) bone disorder that is present at birth. It is also known as brittle bone disease. A child born with OI may have soft bones that break (fracture) easily, bones that are not formed normally, and other problems. Signs and symptoms may range from mild to severe.
There are at least 8 different types of the disease. The types vary greatly, both within and between types. They are based on the type of inheritance (see below), and signs and symptoms. These include findings on X-rays and other imaging tests. The OI types are as follows:
OI is passed on through the genes. The different types are passed on in different ways. The gene may be inherited from one or both parents. Or the gene can be passed on from an unexplained change (spontaneous mutation) of a gene.
Most babies with OI have a defect of one of two genes. These genes help in forming collagen. Collagen is a main part of connective tissue that connects and supports the whole body, including the bones. Because of the defect there is not enough collagen. Or the collagen is abnormal.
The symptoms of OI vary greatly within and between types. Symptoms of OI include:
The symptoms of osteogenesis imperfecta may look like other medical conditions. Always see your child's healthcare provider for a diagnosis.
Your baby's healthcare provider will ask questions about your baby's medical history, your family and pregnancy history, and your baby's current symptoms. He or she will examine your baby, looking for signs and symptoms of OI. The milder forms of OI may be difficult to diagnose in a baby.
Your baby's healthcare provider may refer you to specialists with experience in diagnosing and treating OI. For example, your baby may be referred to a specialist in genetic conditions (geneticist) or in bone disorders (orthopedist).
Your baby's healthcare provider or the specialists may recommend the following diagnostic tests:
Your child’s healthcare provider will figure out the best treatment based on:
The main goal of treatment is to prevent deformities and fractures. And, once your child gets older, to allow him or her to function as independently as possible. Treatments for preventing or correcting symptoms may include:
Complications may affect most body systems in a baby or child with OI. The risk of developing complications depends on the type and severity of your baby's OI. Complications may include the following:
OI is a lifelong condition. Managing it may include the following:
Call your baby's healthcare provider if your baby:
Tips to help you get the most from a visit to your child’s healthcare provider:
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