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Osteogenesis Imperfecta

  • "When a child has OI, it's important to use a multidisciplinary approach that involves a care team of the different specialists the child may need. This includes orthopedists, geneticists, endocrinologists and others as needed."

    ––Samantha Spencer, MD, orthopedic surgeon, Boston Children's Hospital

    If your child has been diagnosed with osteogenesis imperfecta (OI), you’ll have concerns and questions about her health, treatment, recovery and other issues. It may comfort you to know that Boston Children's Hospital is a world leader in pediatric orthopedics, and we have a wealth of experience helping children with this condition. We specialize in innovative, family-centered care to support your child and family every step of the way.

    About osteogenesis imperfecta

    Osteogenesis imperfecta (OI), also known as brittle-bone disease, is a genetic and inherited disorder characterized by fragile bones that break easily without a specific cause.

    • OI is caused by a genetic defect affecting the non-mineral part of bone. About 85 percent of defects are in collagen, the triple helix connective tissue rope that holds the mineral parts of bones together. Other more rare forms of OI affect other proteins in bone.
    • OI is a lifelong condition that varies greatly in severity, affecting bone quality and bone mass.
      • The condition can also affect a child’s stature, hearing, skin, blood vessels, muscle mass (hypotonia, or poor muscle tone) and teeth (dentinogenesis imperfecta).
    • The most common form of OI (Type I) is the least severe.
    • The disorder occurs in an estimated one out of 12,000 to 15,000 babies, and equally affects boys and girls of all races and ethnicities.
    • The condition is most often diagnosed by:
      • x-rays
      • history of frequent fractures with minimal trauma
      • genetic testing of a blood sample (DNA blood test)
      • bone density scan (DXA)
    • Surgery may be needed to manage:
    • Orthopedists can often reinforce fragile leg bones using minimally-invasive telescopic Fassier Duval rods.

    How Boston Children's Hospital approaches osteogenesis imperfecta

    Doctors at Children's work together in multidisciplinary care teams to give your child the individualized attention she needs. Depending on the severity of your child’s OI, her care team could include orthopedic, genetic and endocrinology specialists—as well as dentists, audiologists, physical and occupational therapists and pulmonologists.

    Whatever treatment your child requires, you can have peace of mind knowing that, as a national and international orthopedics center, our Orthopedic Center has vast experience treating children with OI. As a result, we provide expert diagnosis, treatment and care for children with every type and manifestation of the condition.

    One of the first programs. Our Orthopedic Center is one of the world’s first comprehensive pediatric orthopedic programs, and is now the largest pediatric orthopedic surgery center in the United States, performing more 5,000 procedures each year. Our program, consistently ranked among the highest in the country by U.S.News & World Report, is the nation’s preeminent care center for children and young adults with developmental, congenital, post-traumatic and neuromuscular problems of the musculoskeletal system.

    Osteogenesis imperfecta: Reviewed by Samantha Spencer, MD

    © Boston Children's Hospital, 2011

    Contact Us

    Orthopedic Center
    Boston Children's Hospital
    300 Longwood Avenue
    Fegan 2
    Boston MA 02115

    617-355-6021

  • Right now, you probably have lots of questions: How serious is osteogenesis imperfecta? How will the condition affect my child’s life? What do we do next? We’ve provided some answers to your questions on this site, and our experts at Children’s Hospital Boston can explain your child’s condition in detail when you meet with us.

    What are the signs and symptoms of osteogenesis imperfecta (OI)?

    The major sign of all forms of OI is bone fragility resulting in frequent fractures.

    There are actually 13 different types of OI. But according to the Osteoporosis and Related Bone Diseases National Resource Center, part of the National Institutes of Health (NIH), the four major types of OI are:

    Type I: the mildest and most common type—usually inherited

    • bones fracture easily
    • most fractures occur before puberty (adult women will occasionally have fractures after menopause)
    • can usually be traced through the family
    • near normal stature or slightly shorter
    • blue or blue-gray sclera (the normally white area of the eyeball)
    • dental problems (dentinogenesis imperfecta)
    • hearing loss beginning in one’s 20s or 30s
    • triangularshape to face
    • spinal curvature

    Type II: the most severe type—frequently life-threatening

    • newborns severely affected
    • usually results from a new gene mutation
    • extremely small stature; extremely undersized chest; underdeveloped lungs

    Type III: severe type—usually no family history

    • fractures at birth very common
    • x-ray may reveal healing of fractures that occurred while in the uterus
    • severe early hearing loss
    • loose joints and poor muscle development in arms and legs
    • barrel-shaped rib cage

    Type IV: moderate type—often traced through family lines

    • bones fracture easily—most before puberty
    • normal or near-normal colored sclera
    • teeth may or may not be involved
    • spinal curvature
    • loose joints

    When does OI usually become obvious?

    Severe cases of OI can be detected in infancy, based on clinical evidence and testing. Milder forms can be difficult to diagnose in infancy and childhood.

    What causes OI?

    The most common forms of OI are inherited and can usually be traced through the family.

    How common is OI?

    • An estimated 25,000 to 50,000 Americans have OI.
    • An estimated one in every 12,000 to 15,000 newborns is born with OI.

    Is OI painful?

    Like the disease itself, the level of pain a child may feel is highly variable. Some children do experience chronic pain from their condition.

    How serious is OI? Can my child function with this condition?

    Osteogenesis imperfecta is a serious lifelong condition that needs to be managed through an interdisciplinary medical approach to maximize a child’s quality of life and ability to function. The condition presents complex challenges on anatomical, medical and socio-psychological levels. Nevertheless, children with OI can grow up to lead full, productive lives.

    Do braces help correct OI?

    Braces, custom-made equipment and other assistive devices can help a child with OI to function, but can’t lead to an improvement of the condition itself.

    How does a doctor diagnose OI?

    Tools for diagnosing osteogenesis imperfecta can include:

    How does Boston Children’s treat OI?

    Treatments for preventing or correcting symptoms may include the following:
    • surgery to manage:
    • recurring fractures
    • bowing of the bone
    • scoliosis (sideways curvature)
    • rodding (minimally-invasive procedure to insert a metal bar [Fassier Duval rod] the length of a long bone to stabilize it and prevent deformity)
    • assistive devices, such as wheelchairs, braces and other custom equipment
    • dental procedures
    • physical therapy
    • medication
    • psychological counseling

    Will my child need lifelong care?

    Yes. Boston Children’s follows our pediatric patients well into their adulthood.

    What new research is Boston Children’s doing relating to OI?

    As part of an extensive research study of OI in children and osteoporosis in adults, a team of Boston Children’s researchers led by Matthew Warman, MD, of Boston Children's Orthopedic Research Laboratories, has engineered mice with unusually dense bones using mutations in a gene called Lrp5 that cause high bone mass in people. Read more.

    The clinical and basic science researchers in Boston Children’s Orthopedic Center are recognized throughout the world for their achievements in the field. Our breakthroughs mean that we can provide your child with the most innovative care available.

    Causes

    The most common forms of osteogenesis imperfecta are inherited and can usually be traced through the family.

    Signs and symptoms

    Signs and symptoms of the most common forms of OI can present at birth, or later in childhood, and include:

    • easily fractured bones
    • most fractures occur before puberty
    • usually traceable through the family
    • near normal stature or slightly shorter
    • blue sclera (the normally white area of the eyeball)
    • dental problems
    • hearing loss beginning in a patient’s 20s or 30s
    • triangular-shaped face
    • spinal curvature

    Questions to ask your doctor

    If your teen or child is diagnosed with osteogenesis imperfecta, you may feel a bit overwhelmed. It can be easy to lose track of the questions that occur to you. Lots of parents find it helpful to jot down questions as they arise—that way, when you talk to your child’s doctors, you can be sure that all your concerns get addressed.

    Some of the questions you may want to ask include:

    • Could you describe what’s wrong with my child’s bones?
    • Are other tests needed to confirm this diagnosis?
    • Is there, or could there be, damage to her tissues, blood vessels or organ systems?
    • Does my child need treatment? Does she need surgery?
    • How will OI affect her growth?
    • What will be the long-term effects?
    • Who will be on my child’s care team?
    • How long will my child’s care team follow her?
    • What can we do at home to keep her safe?

    Complications from surgery

    If surgery is needed, the vast majority of surgeries for OI at Children’s are successful and occur without major complications. After surgery, patients are at a very small risk for infection, bleeding or poor bone healing (malunion).

    Long-term outlook

    Osteogenesis imperfecta is a serious lifelong condition that needs to be managed by an interdisciplinary medical team whose aim is to maximize a child’s quality of life and ability to function. The condition presents complex challenges medical and psychological challenges, but children with OI can grow up to lead full, productive lives.

    Osteogenesis imperfecta glossary

    • The Center for Families at Boston Children’s: dedicated to helping families find the information, services and resources they need to understand their child’s medical condition and take part in their care 
    • congenital: present at birth 
    • DXA (dual-energy x-ray absorptiometry) scan: a painless, non-invasive scan that uses two different photon energies (x-ray beams) to measure soft tissue and bone. Currently, DXA is the most widely used way to measure bone mineral density.
    • dentinogenesis imperfecta: dental problems associated with osteogenesis imperfecta
    • diagnosis, diagnostics: identifying disease or injury through examination, testing and observation
    • osteogenesis imperfecta (OI, brittle-bone disease): a genetic and inherited disorder characterized by fragile bones that break easily without a specific cause
    • orthopedic surgeon, orthopedist: a doctor who specializes in surgical and non-surgical treatment of the skeletal system, spine and associated muscles, joints and ligaments
    • orthopedics: the medical specialty concerned with diagnosing, treating, rehabilitating and preventing disorders and injuries to the spine, skeletal system and associated muscles, joints and ligaments
    • sclera: the normally white area of the eyeball; in OI, the sclera often has a bluish tinge
    • x-rays: a diagnostic test that uses invisible electromagnetic energy beams to produce images of internal tissues, bones, and organs onto film

    Boston Children’s Teen Advisory Committee

    To help teenagers take a more proactive role in their treatment and to have their needs recognized, Boston Children’s developed the Teen Advisory Committee. The group—made up of current Children’s patients, ages 14 to 21—serves as a team of peers who can listen to other patients’ needs, ensure their voices are heard.

  • At Boston Children's Hospital, we know that the first step to treating your child’s osteogenesis imperfecta is to form a timely, complete and accurate diagnosis.

    OI is usually diagnosed in infancy or early childhood. To diagnose your child’s OI, the doctor conducts a physical exam. During the exam, the doctor takes your child’s complete prenatal, birth and family medical history.

    Tools for diagnosing osteogenesis imperfecta can include:

    • a complete medical history and physical exam (including ear, nose and throat exam to detect hearing loss*)
    • x-rays
    • DNA blood test
    • DXA bone density scan

    *Note: hearing loss, if any, usually occurs in young adulthood, not childhood.

  • Boston Children's Hospital's interdisciplinary team of sub-specialists provides comprehensive treatment for osteogenesis imperfecta—including evaluation, diagnosis, consultation and follow-up care.

    To date, there's no known treatment, medicine or surgery that can cure OI, but treatment for the condition aims to:

    • correct and prevent fractures and deformities
    • allow your child to function as well and as independently as possible

    Treatments for preventing or correcting symptoms may include the following:

    • surgery to manage:
    • recurring fractures
    • bowing of the bone
    • scoliosis (sideways curvature of the spine)
    • surgery to maintain your child's ability to sit or stand
    • rodding (minimally-invasive procedure to insert a simple or telescopic metal rod [Fassier Duval rod] the length of a long bone to stabilize it and prevent deformity)
    • assistive devices, such as wheelchairs, braces and other custom equipment
    • dental procedures
    • physical therapy
    • medications (for pain and for bone strength)
    • psychological counseling

    Long-term outlook

    Osteogenesis imperfecta is a serious lifelong condition that needs to be managed through an interdisciplinary medical approach to maximize a child's quality of life and ability to function. The condition presents complex challenges on anatomical, medical and socio-psychological levels.

    Nevertheless, children with OI can grow up to lead full, productive lives. Some prominent figures who have OI include:

    • American actor Michael J. Anderson
    • British actress Julie Fernandez
    • Jazz pianist Michel Petrucciani
    • British actor Nabil Shaban
    • German actor, writer and ethicist Peter Radtke
    • Music producer Simon Eric Gilbert
    • Playwright Firdaus Kanga-Parsi
    • American Olympic bronze medalist Doug Herland

    After surgery

    If your child has had surgery, she'll probably stay in the hospital for a couple of days to a week and will receive pain medication. When she goes home, she'll need to limit her weight-bearing activities, and she might use crutches or a walker for a few weeks. Physical therapy will help her restore her muscle strength. Her doctor will advise on what activities she'll be able to resume, and when.

    Lifestyle adjustments

    The National Institutes of Health advise the following modifications to protect the bones and tissues of a baby, child or teen with OI—and to adapt her living spaces to her condition:

    • use spine-protecting techniques for standing, sitting and lifting
    • avoid activities that jar or twist the spine, such as jumping
    • modify the child's home and school environments to accommodate short stature or low strength and to promote independent function
    • keep floors free of obstacles that may cause the child to fall or have an accident
    • develop healthy lifestyle diet and exercise regimens to maximize bone mass, develop muscle strength and avoid obesity

    Coping and support

    At Boston Children's, we understand that a hospital visit can be difficult. So, we offer many amenities to make your child's—and your own—hospital experience as pleasant as possible. Visit the Center for Families for all you need to know about:

    • getting to Boston Children's
    • accommodations
    • navigating the hospital experience
    • resources that are available for your family

    In particular, we understand that you may have a lot of questions when your child is diagnosed with osteogenesis imperfecta. Will my child need surgery? How long will her recovery take? How will the condition affect her long term? Boston Children's can help you connect with extensive resources to help you and your family through this stressful time, including:

    • patient education: From doctor's appointments to treatment to follow-up, our nurses and physical therapists will be on hand to walk you through your child's diagnosis, surgery and recovery. And once your child is home, we'll help you coordinate and continue the care and support she received at Boston Children's. 
    • parent-to-parent: Want to talk with someone whose child has been treated for OI? Our Orthopedic Center can often put you in touch with other families who've been through the same experience that you and your child are facing. 
    • faith-based support: If you're in need of spiritual support, we'll connect you with the Boston Children's chaplaincy. Our program includes nearly a dozen clergy—representing Protestant, Jewish, Muslim, Catholic and other faith traditions—who will listen to you, pray with you and help you observe your own faith practices during your hospital experience. 
    • social work: Our social workers and mental health clinicians have helped many other families in your situation. We can offer counseling and assistance with issues such as coping with your child's diagnosis, stresses relating to coping with illness and dealing with financial issues.
  • Research & Innovation

    For more than a century, orthopedic surgeons and investigators at Boston Children's Hospital have played a vital role in advancing the field of musculoskeletal research. We’ve developed breakthrough treatments and major advances for lower limb and hip problems, as well as scoliosis, polio, tuberculosis and traumas to the hand and upper extremities.

    Our pioneering research helps answer the most pressing questions in pediatric orthopedics today—to provide children with the most innovative care available.

    In Boston Children’s Orthopedic Center we take great pride in our basic science and clinical research leaders, who are recognized throughout the world for their achievements. Our orthopedic research team includes:

    • full-time basic scientists
    • 28 clinical investigators
    • a team of research coordinators and statisticians

    Understanding and treating brittle bones


    A gene in the load-sensing machinery of bone may hold the key to developing new drugs for brittle bone disorders like osteogenesis imperfecta (OI) in children or osteoporosis in adults.

    In bones, cells called osteocytes sense “mechanical stress,” like that caused by exercise, and in response call for other cells called osteoblasts to produce more bone tissue, giving the bones greater density and strength.

    A team of researchers led by Matthew Warman, MD, of Boston Children's Orthopedic Research Laboratories, has engineered mice with unusually dense bones using mutations in a gene called Lrp5 (which is part of the osteocytes' stress-sensing system) that cause high bone mass in people. Read more.

    Studies of developmental hip conditions

    Some developmental hip conditions can lead to premature arthritis in young adults, with resulting pain and disability. Our research focuses on understanding the pathomechanics (mechanical forces that adversely change the body's structure and function) of these conditions. With better understanding, we can improve existing therapies and develop new therapies for these conditions.

    Orthopedic basic science laboratories

    Working in Boston Children’s labs are some of the leading musculoskeletal researchers in the nation. Our labs include:

    Children speak about what it’s like to be a medical research subject

    View a video of a day in the life of Children’s Clinical and Translational Study Unit, through the eyes of children who are “giving back” to science.

  • Your Story

    A protective bubble of my own: Sandy's story

    I’ve always known my parents would forever see me as their baby. And being their little girl, I knew that it would be hard for them to watch me leave for college to live in a dorm, all by myself. I appreciate their concerns and love, but it didn’t change the fact that after high school I was ready to be on my own. As a kid with Osteogenesis Imperfecta (O.I.), a brittle bones condition, I could not wait to get out from their protective bubble, which I had lived inside of for 18 years.Growing up there were many milestones that I watched my friends and two unaffected brothers experience while I sat on the sidelines. Whether it was learning to walk, learning to ride a bike, taking karate lessons, going to sleep away camp, or getting a license  – it seemed that I had grown up constantly waiting for my turn. I’d be rich if I got a nickel for every time I heard, “Some day when you’re stronger you’ll be able to…” or “When your bones are stronger we won’t worry as much” and “You probably shouldn’t do that, it’s not safe for you.” [Read the rest of Sandy's story]

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