Osteogenesis Imperfecta (Brittle Bone Disease) in Children: Symptoms, Causes & Treatment Options

Osteogenesis Imperfecta in Children
Osteogenesis imperfecta (OI), commonly known as brittle bone disease, is a rare genetic condition affecting approximately 1 in 20,000 individuals. Babies with OI are born with fragile bones that break easily.

Osteogenesis imperfecta (OI) is a rare genetic bone disorder that is present from birth. Children with OI often have soft bones that break easily, abnormal bone formation, and other related issues. Symptoms can vary widely, ranging from mild to severe.

OI comes in different types, each causing unique challenges. Some children may experience mild symptoms, such as slightly more fragile bones, while others may face more serious complications. With appropriate treatments, individuals with OI can improve their quality of life and achieve their full potential.

Osteogenesis imperfecta (OI) is a genetic condition that can be inherited in various ways. It may be passed down from one or both parents, or it can result from a spontaneous mutation in the gene without any clear cause.

Most infants with OI have a defect in one of two specific genes responsible for producing collagen. Collagen is a key component of connective tissue, which provides structure and support to the body, including the bones. Due to this defect, collagen production is either insufficient or abnormal.

The following are the most common forms of osteogenesis imperfecta and typical symptoms associated with them:

Type I: This is the mildest and most common form of brittle bone disease. While the collagen is normal, there isn’t enough of it. Individuals with Type I experience bones that break more easily, though their bones generally maintain a normal shape. The first fracture typically occurs when the child begins walking, and fractures tend to become less frequent after puberty. The sclera (whites of the eyes) may appear blue, and they may experience hearing loss as adults.

Type II: This is the most severe form of the condition. The collagen is abnormally formed, and babies with Type II are typically born with numerous fractures, are very small, and experience severe breathing difficulties. As a result, most of these babies do not survive.

Type III: Collagen doesn’t develop normally in this kind, and newborns often have broken bones. Children tend to be shorter than other children their age, and as they age, their bones are more brittle. They may have brittle teeth, respiratory issues that can be fatal, hearing loss as adults, unusually formed bones (such as a curved spine, an outward-pointing rib cage, a triangular face, or legs that bow out), and other issues. They may have a blueish tint to their eye whites.

Type IV: In this type the collagen does not form normally. Children typically have improperly formed bones (similar to type III) and frequent bone breakage (which may occur less frequently during puberty). They may have hearing loss as adults and are shorter than other children their age.

If someone has a family member with osteogenesis imperfecta, doctors can perform tests to determine if a child has the condition. Before birth, a prenatal ultrasound can be done to check for broken or unusually shaped bones, or an amniocentesis may be ordered to test for mutations in the collagen gene.

If OI isn’t diagnosed before birth, doctors can conduct tests after the baby is born. They may also order tests even without a family history of OI if:

To diagnose osteogenesis imperfecta in babies and children, doctors may recommend:

There is no cure for osteogenesis imperfecta, but a healthcare team can assist children with managing the challenges related to the condition.

The care team for a child with brittle bone disease may include:

Treatment options may include:

Knowing that your child has osteogenesis imperfecta, a condition that will impact them throughout their life, can feel overwhelming. The future may seem very different from what you had anticipated. However, starting occupational and physical therapy early can support both you and your child in adjusting to these changes. It’s also helpful to have open conversations with your child’s healthcare team and loved ones throughout the process. They can assist in creating a plan to manage symptoms and prepare for what lies ahead.