Osteogenesis Imperfecta

Osteogenesis imperfecta, sometimes called “brittle bone disease,” is a genetic condition that affects how the body makes strong bones. Children with osteogenesis imperfecta have bones that break more easily than usual, sometimes from minor injuries or even normal daily activities. The condition can range from mild to more severe. With early diagnosis, specialized care, and a coordinated treatment plan, many children with osteogenesis imperfecta live active, healthy lives.

What Causes Osteogenesis Imperfecta?

Osteogenesis imperfecta is caused by a mutation in the genes responsible for producing collagen, a protein that gives bones their strength and structure. When collagen is not made correctly or in enough quantity, bones become more fragile.

Osteogenesis imperfecta is usually inherited, but it can also occur due to a new genetic change in a child with no family history. There are several types of osteogenesis imperfecta, ranging from mild to severe, each with different features and needs.

What Are the Symptoms?

Symptoms of osteogenesis imperfecta vary depending on the type and severity, but may include:

• Frequent bone fractures
• Bones that bend or curve easily
• Short stature
• Blue or gray tint to the whites of the eyes
• Muscle weakness
• Hearing loss later in childhood or adulthood
• Dental problems (brittle teeth), called dentinogenesis imperfecta

Some children may have only a few fractures, while others may have many.

When Should My Child See a Specialist?

You should see a pediatric orthopedic specialist or genetic specialist if:

• Your child has fractures from minor injuries
• Fractures happen repeatedly
• There is a family history of osteogenesis imperfecta
• Your pediatrician suspects a bone strength disorder

Early diagnosis allows your child to receive the safest and most effective care.

How Is Osteogenesis Imperfecta Diagnosed?

Diagnosis begins with a physical exam and review of your child’s medical and family history. Tests may include:

• X-rays to assess bone structure and healing
• Bone density testing
• Genetic testing to confirm the diagnosis
• Blood tests in some cases

These tools help determine the type of osteogenesis imperfecta and guide treatment.

How Is Osteogenesis Imperfecta Treated?

There is no cure for osteogenesis imperfecta, but treatment can help strengthen bones, prevent fractures, and help children stay as active and independent as possible. Treatment is always multi-disciplinary and includes team members from general pediatrics, endocrinology, physical therapy, and orthopedic surgery. Specific treatment depends on:

• Your child’s age
• The type and severity of osteogenesis imperfecta
• Number and pattern of fractures
• Mobility and activity level

Treatment goals include:

• Reducing fracture risk
• Supporting safe movement and development
• Improving strength and mobility
• Promoting independence and quality of life

Nonsurgical Options

Most children with osteogenesis imperfecta receive nonsurgical care, which may include:

• Medications such as bisphosphonates to help strengthen bones
• Physical therapy to build muscle strength and improve mobility
• Safe exercise programs to promote bone health
• Mobility aids or protective equipment when needed
• Nutritional support, including calcium and vitamin D
• Education for families on safe handling and injury prevention

Surgical Options

Surgery may be recommended for children who have frequent fractures or bone deformities. Surgical treatment may include:

• Inserting metal rods into long bones to strengthen and stabilize them
• Correcting bone deformities
• Repairing fractures that do not heal properly

These procedures help reduce the risk of fractures and improve mobility.

What Are the Risks of Surgery?

When surgery is needed, possible risks may include:

• Infection
• Problems with bone healing
• Need for repeat surgeries as your child grows
• Hardware complications

Your child’s surgeon will carefully explain all risks and benefits.

What Does Recovery From Treatment Involve?

Recovery depends on whether care is medical, surgical, or both. Physical therapy plays an important role in helping children move safely, build strength, and gain confidence. Families receive guidance on safe movement and daily activities.

How Long Does Treatment Last?

Osteogenesis imperfecta is a lifelong condition, so treatment and monitoring are ongoing. However, many children become stronger and more independent over time with proper care and support.

What Is the Outlook for My Child?

The outlook for children with osteogenesis imperfecta depends on the type and severity; however, overall quality of life has improved significantly with modern care and medical management. Many children attend school, participate in modified sports, and engage fully in family and social activities.