Osteogenesis Imperfecta

What are the signs and symptoms of osteogenesis imperfecta?

All children with osteogenesis imperfecta have weak bones that break easily. In children with the mildest form, weak bones may be their only symptom of osteogenesis imperfecta. Other symptoms vary depending on what type of osteogenesis imperfect a child has. In general, symptoms may include:

• Breathing problems
• Brittle, misshapen or misaligned teeth
• Bruising easily
• Hearing loss
• Irregularly shaped bones, such as bowed legs or a curved spine
• Small stature
• Triangular face

How do we diagnose osteogenesis imperfecta? 

An osteogenesis imperfecta diagnosis can happen before or after birth. Sometimes, we detect osteogenesis imperfecta with genetic testing or imaging tests before your baby is born. Imaging during pregnancy that may help detect this condition includes:

• Fetal ultrasound to look for unusually shaped or broken bones in a developing baby
• Fetal MRI to evaluate the fetal bones and other structures such as the brain or lungs
• Fetal echocardiogram to evaluate a baby’s heart

If your doctor suspects osteogenesis imperfecta, they may also use additional tests, including:

• Amniocentesis to test your amniotic fluid, the protective liquid around your baby, for a change in the collagen gene
• Blood tests to look at the makeup of collagen in one or both parents

Your baby may also have tests after birth to check for osteogenesis imperfecta or confirm the diagnosis, including:

• Tests to look at the collagen gene that can be obtained from blood, spit or cheek swabs
• Bone density tests to measure the minerals in your child’s bones
• X-rays to examine bone shape and fractures

How do we treat osteogenesis imperfecta? 

Treatment for osteogenesis imperfecta varies based on what symptoms your child has. In general, treatment focuses on healing fractures and preventing future fractures by increasing bone strength and maximizing your child’s function.

Your child’s treatment plan may include:

• Activity modifications, such as avoiding high-impact or extreme sports
• Assistive devices, such as crutches, canes or walkers, to help increase mobility
• Low-impact exercise, such as swimming, to build muscle
• Medications to improve bone strength and lower fracture risk
• Occupational therapy to improve fine motor skills or learn to use assistive devices
• Physical therapy to increase strength and mobility
• Surgery to fix irregularly shaped or broken bones
• Monitoring for hearing loss and dental care

Why choose us for treatment of osteogenesis imperfecta?

At Children’s Hospital Colorado, we provide advanced, compassionate care for your child from before they are born and as they grow. Our team offers state-of-the-art testing, accurate diagnoses and effective treatments. We’ll make sure you have seamless, excellent care on every step of your journey with:

• Coordinated care: Our Colorado Fetal Care Center offers comprehensive genetic testing and state-of-the-art imaging to accurately diagnose genetic diseases such as osteogenesis imperfecta before birth. During your appointment, you meet every specialist you may need. Geneticists, orthopedic specialists, pediatric surgeons, neonatologists, psychologists and others are there to help explain the diagnosis, answer questions and recommend treatment options. After birth, your child receives care from our Skeletal Health and Dysplasia Program. Children diagnosed with skeletal dysplasia receive all the care they need in our multidisciplinary care center, so you don’t have to travel to see many specialists.
• Orthopedic expertise: The highly specialized team at our Orthopedics Institute has experience in the rarest and most complex injuries and conditions. In fact, our orthopedic surgery team is among the most experienced pediatric teams in the nation. We design effective treatment plans to help children with osteogenesis imperfecta maximize their function and improve their quality of life. For babies who need more advanced care, our Neonatal Intensive Care Unit (NICU) treats more babies than almost any NICU in the country, with outcomes that rank above the national average and will help your baby get the best start to life they can.
• Seamless transitions: Children with osteogenesis imperfecta often require lifelong support from physical therapy or occupational therapy. At Children’s Colorado, your child has seamless access to pediatric specialty care such as rehabilitation services, orthopedic surgery and genetic counseling.
• Research-based care: At Children’s Colorado, we’re setting the standard for pediatric orthopedic care. We’re one of only a few children’s hospital programs that provides care from before birth into adulthood from nationally recognized skeletal dysplasia experts. Our Skeletal Health and Dysplasia Program offers state-of-the-art clinical trials so you have access to the latest treatments.

Contact us

Schedule an appointment with the Colorado Fetal Care Center by calling 720-777-4463 or our Orthopedics Institute by calling 720-777-6600.

Helpful resources

• The National Institute of Arthritis and Musculoskeletal and Skin Diseases offers further education about osteogenesis imperfecta, including its types and how the condition is inherited.
• The Osteogenesis Imperfecta Foundation provides education, funds research and connects patients with support groups.