Osteogenesis Imperfecta Symptoms & Causes

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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
  • triangular shape 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.

We are grateful to have been ranked #1 on U.S. News & World Report's list of the best children's hospitals in the nation for the third year in a row, an honor we could not have achieved without the patients and families who inspire us to do our very best for them. Thanks to you, Boston Children's is a place where we can write the greatest children's stories ever told.”
- Sandra L. Fenwick, President and CEO

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