Osteogenesis Imperfecta

Osteogenesis imperfecta is a genetic disorder that impacts how the body produces collagen, a protein that helps strengthen bones. OI can be a mild bone disorder, resulting in a few fractures in a child’s lifetime. In more severe cases, the disease can cause hundreds of fractures and even impact other organ systems.

At Children's Ortho of Atlanta, we are dedicated to treating children with OI throughout their lifetime. Our team will teach our children living with OI as well as parents what they should expect and how to prepare.

Type I Collagen Disorder

When a child has OI, his or her genes affect how their body produces Type I collagen, the type of protein that forms the structure of bones. The disorder causes either a lack of collagen or the collagen is formed abnormally. Type I collagen is also located in teeth, the whites of the eyes, ears, skin, ligaments, heart valves and blood vessels. This is why, even though OI is characterized as a bone disorder, the disease can impact other organ systems as well.

Causes of Osteogenesis Imperfecta

OI is an inherited disorder, caused by DNA mutation. Currently, there are over 300 known genetic mutations associated with the disorder, which is one of the reasons why some forms are more severe than others. Not every case of OI is inherited. Therefore, it is possible for your child to have OI without other family members being affected.

Quick Fact: Approximately 1 out of every 20,000 live births result in Osteogenesis Imperfecta.

Types of Osteogenesis Imperfecta

There are four classic types of OI and a genetic test can often determine which type your child has.

Type 1 OI: Mild

This is by far the most common and mildest type of OI. It is also likely to be inherited. Children with Mild OI can have blue sclera – meaning the whites of the child’s eyes are blue. Fractures do not usually occur in these children until preschool and/or when the child is walking. In some cases, teeth are affected as well (Dentinogenesis Imperfecta).

Type II OI: Most Severe

The collagen is extremely abnormal with this type of OI, causing the bones to be extremely weak. Fractures occur, often to the skull and ribs, while the baby is still in utero, causing respiratory failure and/or stroke. While Type II OI was previously known as lethal, with advances in medical treatment, these children are surviving much longer than previously.
 

Type III OI: Severe

Children with Severe OI typically have fractures when they are born. Their stature is extremely short and their spine is often deformed. Life expectancy is decreased, typically because of respiratory illness, but with new advances, these children are living longer and longer. Medications to make bones stronger, known as bisphosphonates, are almost always prescribed, and can be started as early as infancy.

Type IV OI: Moderate to severe

These children are usually short in stature with teeth that are often affected. Fractures and crooked bones are quite common. A pediatric orthopedic surgeon is often required to care for these patients as surgeries are likely required to protect the bone against future fractures and to straighten out crooked bones. Medications to make bones stronger, known as bisphosphonates, are typically prescribed.

Osteogenesis Imperfecta Treatment

There is currently no cure for Osteogenesis Imperfecta, so treatments are focused on minimizing pain, deformities and fractures. Treatments range from PT, bracing, medications and sometimes surgery.

Contact Us

If your child has recently been diagnosed with OI, the diagnosis can be an overwhelming one. The COA team is here to support your child and your family every step of the way. Call us or schedule an appointment online today.

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