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Osteogenesis imperfecta (OI), also known as “brittle bone disease,” is a rare genetic disorder that affects the bones.

People born with OI have bones that break easily — sometimes without any trauma. They are likely to suffer multiple fractures throughout their life, which can range from minor to severe.

An estimated 25,000 to 50,000 Americans have OI, according to the Osteogenesis Imperfecta Foundation.

What Causes Brittle Bone Disease?

Osteogenesis imperfecta means “imperfect bone formation.” A gene change or mutation causes the condition.

Most OI cases stem from a faulty gene that carries incorrect instructions for making collagen type 1, a protein that can help strengthen bones. As a result, people with OI are more prone to bone fractures.

Brittle bone disease is often inherited; children receive the improper gene from one or both parents. Parents do not need to have the condition themselves to pass it on — just the gene that causes it.

In other situations, OI is not inherited. The gene stops working before birth.

Types of Brittle Bone Disease

There are more than a dozen identified types of osteogenesis imperfecta. But some people do not fit into one of the classified types of the condition.

Symptoms, severity, and life expectancy vary by type. The most common types are:

• Type I: This is the most common and least severe form of OI. People may have only a few fractures or several dozen in their lives. They may not have many other obvious signs of the condition.
• Type II: This is the most severe type of OI. Babies typically have several fractures, a soft skull, and an unstable neck at birth. They often have breathing problems and may die at birth or soon after.
• Type III: This has many similarities to type II OI. Babies often have fractures at birth, and some may have fractures that healed before birth. They may have several dozen to several hundred fractures in their lives and also may experience breathing problems throughout their lives. Common symptoms include short height and spinal and bone deformities.
• Type IV: This is a more moderate type. People with this type of OI have frequent fractures that often decrease after puberty. They are often shorter than others their age and may develop scoliosis.

Signs and Symptoms of Osteogenesis Imperfecta

There are many different symptoms of osteogenesis imperfecta. The symptoms vary by the specific type of OI that someone has. Not all people will experience many of the symptoms.

Some of the most common symptoms, depending on the type, include:

• Frequent bone fractures.
• Bone deformities.
• Skin that bruises easily.
• Curvature of the spine (scoliosis).
• Compressed vertebrae in the spine.
• Loose joints.
• Muscle weakness.
• Triangular face.
• Shorter stature.
• Flat feet.
• Hearing loss.
• Lung/breathing problems.
• Discoloration of the sclera (whites of the eyes), often with a gray, blue, or purple tint.
• Barrel-shaped rib cage.
• Brittle, misshapen, or discolored teeth.

Diagnosing Osteogenesis Imperfecta

In many cases, doctors can diagnose osteogenesis imperfecta before a baby is born. If a parent has osteogenesis imperfecta or a family history of the condition, doctors may test for the condition using ultrasound or other tests.

Doctors also can diagnose the condition after birth with x-rays or genetic testing. If a child has frequent fractures and other symptoms of osteogenesis imperfecta, doctors may perform tests to diagnose the condition.

Treatment for Osteogenesis Imperfecta

There is no cure for osteogenesis imperfecta, but treatment can help people manage their symptoms and live a healthier life.

According to the OI Foundation, a multidisciplinary team of specialists may provide care throughout someone’s life.

That includes pediatricians, primary care physicians, orthopaedic specialists, endocrinologists, geneticists, rehabilitation specialists, neurologists, and pulmonologists.

Managing brittle bone disease may include:

• Fracture care, including splinting, casting, and bracing.
• Physical therapy to improve and maintain movement and function.
• Occupational therapy to help with motor skills.
• Surgery to repair fractures and treat other complications of OI, such as spine curvatures or bone deformities.
• Medications to increase bone density, prevent bone loss, and treat other symptoms. There are existing medications and clinical trials in place.
• Specialized care for complications of OI, such as treatment for breathing problems or hearing aids for hearing problems.

Maintaining a healthy lifestyle is important. That can include diet, exercise, avoiding smoking and alcohol, and getting sufficient amounts of nutrients like vitamin D and calcium.

Getting treatment for even minor conditions like the cold or flu is important for people with OI. Even something like coughing or sneezing could cause fractures in some people.

Some treatments, such as inserting metal rods during surgery to repair fractures, may be more complicated because of skeletal deformities.

Due to the difficulty of living with osteogenesis imperfecta, it’s important for people to have strong support networks. Mental health treatment may be another care option for those who are struggling with emotional burdens.

Osteogenesis Imperfecta Outlook

Osteogenesis imperfecta affects people in different ways, depending on the type they have and their symptoms. Although it can cause a range of symptoms or complications, many people with OI live full, productive lives.

It’s important for them to get the treatment they need to manage their symptoms.