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What is 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 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.

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.

How we care for osteogenesis imperfecta

Depending on the severity of osteogenesis imperfecta your child's care team could include orthopedic, genetic and endocrinology specialists, as well as dentists, audiologists, physical and occupational therapists and pulmonologists.

Our Orthopedic Center has vast experience treating children with OI. As a result, we provide expert diagnosis and treatment, and care for children with every type and manifestation of the condition.

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 is one of the nation’s preeminent care centers for children and young adults with developmental, congenital, post-traumatic, and neuromuscular problems of the musculoskeletal system.

Osteogenesis Imperfecta | Symptoms & Causes

What are the symptoms of osteogenesis imperfecta?

The major symptom of all forms of osteogenesis imperfecta (OI) is bone fragility resulting in frequent fractures. According to the Osteoporosis and Related Bone Diseases National Resource Center, part of the National Institutes of Health (NIH), there are four major types of OI, each with varying symptoms.

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 

What causes osteogenesis imperfecta?

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

Osteogenesis Imperfecta | Diagnosis & Treatments

How is osteogenesis imperfecta diagnosed?

The first step to treating your child’s osteogenesis imperfecta (OI) 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

What are the treatment options for osteogenesis imperfecta?

To date, there's no known treatment, medicine or surgery that can cure osteogenesis imperfecta, 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
  • 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

What is the long-term outlook for children with osteogenesis imperfecta?

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. 

Osteogenesis Imperfecta | Programs & Services