Osteogenesis Imperfecta

Gillette Children’s Specialty Healthcare is one of the nation’s Best Children’s Hospitals in pediatric orthopedics. We offer comprehensive services for patients who have osteogenesis imperfecta—a condition involving fragile bones that break frequently—and related complications.

Our goal is to provide a family-centered environment that helps our patients achieve their highest possible levels of health, independence and happiness.

Why Choose Gillette?

  • Gillette is one of the nation’s nation’s Best Children’s Hospitals in pediatric orthopedics.
  • We offer a broad range of services for patients who have osteogenesis imperfecta and related complications.
  • Our facilities and technology are designed specifically to support the unique needs of people who have complex conditions.
  • Our experts conduct clinical research to promote the highest standards of care.
  • We believe that children who have osteogenesis imperfecta deserve a lifetime of excellent health care—from birth through adulthood.

Definition

Osteogenesis imperfecta (or brittle bone disease) is a genetic condition that causes a defect in collagen—a protein found in bones. The defect leads to bones that are fragile and break easily. It is a lifelong condition that varies greatly in severity, affecting bone quality and bone mass.


Osteogenesis Imperfecta Types

At least eight different forms of osteogenesis imperfecta have been identified. They range in severity from a lethal form to a milder form with few visible symptoms. The specific medical problems children encounter depend on the degree of severity.

Up to 95 percent of osteogenesis imperfecta cases fall into four major types of the condition:

Type I – Mild

Type I is the most common form of osteogenesis imperfecta. Children who have Type I osteogenesis imperfecta typically don’t develop long-bone bowing deformities, and their height is usually normal. Type 1 is usually inherited.

Children who have Type I osteogenesis imperfecta might have:

  • Bones that fracture more easily than normal, most often before puberty
  • A near normal or slightly short stature
  • Blue or blue-gray sclera (the normally white area of the eye)
  • Dental problems (dentinogenesis imperfecta)
  • Hearing loss beginning in their 20s or 30s
  • A curved spine
  • A triangular shaped face

Type II – Extremely Severe/Lethal

Children who have Type II osteogenesis imperfecta are born with severe skull, spine, chest wall and long bone deformities that occur in the uterus. Survival past infancy is rare. Usually a new gene mutation—not an inherited gene mutation—causes Type II osteogenesis imperfecta.

Type III – Severe, Progressive Deformity

Children who have Type III osteogenesis imperfecta are born with fractures that cause moderate to severe abnormalities. X-rays might show healing fractures that occurred in the uterus. With growth, further abnormalities develop, leading to limb shortening and bowing. These problems impair upper extremity motion and are often severe enough that children can’t stand. Children who have Type III osteogenesis imperfecta usually have no family history of the condition.

Children with Type III osteogenesis imperfecta typically have:

  • Bones that fracture more easily than normal
  • Severe hearing loss
  • Loose joints and poor muscle development in the arms and legs
  • A barrel-shaped rib cage
  • Short stature
  • A curved spine
  • A triangular shaped face
  • Dental problems
  • Blue or blue-gray sclera

Type IV – Moderate to Severe

Although fractures are common for children with Type IV osteogenesis imperfecta, bone deformities are usually not as severe. Type IV is more severe than Type I, but not as severe as Types II or III. Type IV can often be traced through family lines.

Children who have Type IV osteogenesis imperfecta typically have:

  • Bones that fracture easily, most often before puberty
  • Normal or near-normal colored sclera
  • A curved spine
  • Loose joints
  • Short stature
  • Mild to moderate bone abnormalities
  • Hearing loss
  • A barrel-shaped rib cage
  • A triangular shaped face

In some cases, children who have Type IV osteogenesis imperfecta have dental problems.


Osteogenesis Imperfecta Symptoms and Effects

All forms of osteogenesis imperfecta share a major concern: fragile bones that break frequently. A person who has mild osteogenesis imperfecta might experience a few fractures, while those with severe forms might have hundreds of breaks in a lifetime. Symptoms of severe osteogenesis imperfecta appear in infancy. Symptoms of milder forms can be difficult to recognize or diagnose in infancy and early childhood.

The effects of osteogenesis imperfecta vary greatly.

  • Life expectancy isn’t affected in people with mild or moderate symptoms.
  • Life expectancy might be shortened for people who have more severe symptoms.

The most severe forms of osteogenesis imperfecta result in death at birth or during infancy. People who have serious forms of the condition might have difficulty breathing. Respiratory failure, followed by accidental trauma, are the most frequent causes of death for people who have osteogenesis imperfecta.
Despite the challenges of managing osteogenesis imperfecta, most children, teens and adults who have the condition lead full and productive lives.


Osteogenesis Imperfecta Causes, Incidence and Risk Factors

The most common forms of osteogenesis imperfecta are caused by a mutation on collagen genes.  The mutation affects the body’s production of the collagen found in bones and other tissues. Other types of osteogenesis imperfecta are caused by a mutation of the cartilage-associated protein gene. Osteogenesis imperfecta isn’t caused by too little calcium or poor nutrition.

Osteogenesis imperfecta occurs equally in girls and boys and among all racial and ethnic groups, affecting six to seven people in every 100,000. An estimated 20,000 to 50,000 people in the U.S. have the condition. The estimated number varies greatly because milder forms of osteogenesis imperfecta might go undiagnosed.

The greatest risk factor is heredity. If one parent has osteogenesis imperfecta, a child has a 50 percent chance of having the condition. The most common forms of osteogenesis imperfecta are inherited and can usually be traced through the family. Less common forms are passed to children through recessive inheritance.

Approximately 35 percent of children who have osteogenesis imperfecta have no family history of the condition. This occurs when there’s a new mutation on a gene. It isn’t caused by anything parents did before or during pregnancy.


Osteogenesis Imperfecta Tests

Sometimes severe cases of osteogenesis imperfecta are detected in infancy. Milder forms are often more difficult to diagnose in infancy and childhood.

Osteogenesis imperfecta is typically diagnosed after reviewing information gathered from a physical exam and from:

  • A history of frequent fractures with minimal trauma
  • Genetic testing of a blood sample (DNA blood test)
  • A bone density scan using dual-energy X-ray absorptiometry (DXA scan)

Findings from the physical exam and X-rays might initially suggest osteogenesis imperfecta, but further testing is often required to confirm it.  We might use biochemical and genetic studies to diagnose osteogenesis imperfecta. Some of these tests help to rule out other conditions, such as:

  • Hypophosphatasia
  • Nutritional rickets
  • Cushing’s disease
  • Calcium deficiency/malabsorption
  • Nonaccidental injury

We might perform a DNA analysis of genes and protein-based analysis of collagen using a skin biopsy. Other tests might suggest unusual recessive forms of osteogenesis imperfecta. Negative DNA or collagen tests, however, don’t rule out osteogenesis imperfecta. We might use a DXA scan to assess bone mass. In some cases, we might perform a bone biopsy.


Osteogenesis Imperfecta Treatments

Gillette uses an interdisciplinary approach to manage osteogenesis imperfecta. We focus on:

  • Increasing bone density and muscle mass
  • Minimizing fractures
  • Maintaining or restoring bone alignment
  • Maximizing musculoskeletal function
  • Maintaining optimal growth and well-being

Because there is no cure for osteogenesis imperfecta, the goal of treatment is to minimize the effects of the disorder. We continue to provide care for children with osteogenesis imperfecta as they reach adulthood.

Medications

 We might recommend oral or intravenous medications called bisphosphonates to children who have Type III or Type IV osteogenesis imperfecta or who have experienced three to four major fractures within two years. We’ll discuss the use of medications and any potential side effects with patients and families.

After treatment with bisphosphonate therapy, some children experience reduced bone pain within weeks. The use of bisphosphonates has also been shown to:

  • Improve the ability to walk
  • Decrease the number of fractures
  • Increase stature
  • Increase bone density

Physical Therapy and Occupational Therapy

Our rehabilitation specialists, physical therapists and occupational therapists work together to safely support ongoing development, mobility and function.
Children who have osteogenesis imperfecta often have delays in gross motor development. We begin by educating families and caregivers about safely lifting and positioning children to encourage healthy development. As children grow, we routinely evaluate their strength and developmental abilities. If needed, we might recommend adaptive equipment to assist with sitting, standing or walking.

We’ll also help patients maintain strength and endurance through carefully designed therapy programs, particularly after periods of immobilization, such as casting.

Orthopedic Treatments

Orthopedic treatments for osteogenesis imperfecta focus on preventing and/or correcting bone deformities and on treating fractures.

Orthopedic devices: We might use braces, splints and orthotics to help prevent fractures and provide support. When a child who has osteogenesis imperfecta fractures a bone, a lightweight cast or splint supports the limb while it heals. Because minor trauma causes many fractures, the period of immobilization is brief—often two to four weeks—to reduce further bone loss that could occur with prolonged immobilization.

Orthopedic Surgery: We might recommend surgery to manage:

  • Recurring fractures
  • Bowed bones
  • Scoliosis (sideways curvature of the spine)

Surgery often includes implanting rods to support the long bones of the arms and legs. Because typical plates and screws used to stabilize normal bones can cause fragile bones to break, we place telescoping or solid rods within the canal of the bone. This allows us to stabilize fractures and realign deformed bones. Telescoping rods elongate within the bone as a child grows and require replacement less often than solid rods.


Our Osteogenesis Imperfecta Services

Gillette offers comprehensive services for patients who have osteogenesis imperfecta. We now provide an interdisciplinary osteogenesis imperfecta clinic in St. Paul to evaluate and treat newly diagnosed patients in one location. The clinic includes orthopedic surgeons, endocrinologists, geneticists and pediatric rehabilitation medicine specialists who collaborate to develop custom treatment plans for every patient.

Other specialties and services most often involved in care for patients who have osteogenesis imperfecta include:

For more information about Gillette’s specialties and services, search Conditions and Care.

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