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Osteogenesis Imperfecta (brittle bone disease) patient, sitting in wheelchair

Individualized treatment for osteogenesis imperfecta

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Brittle Bone Disease – Osteogenesis Imperfecta

Commonly referred to as brittle bone disease, osteogenesis imperfecta (OI) is a rare, permanent genetic disorder that prevents the building of strong bones. Children with the disorder have bones that break easily and they may have deformed bones. OI can also result in fragile teeth, spine curvatures, hearing loss and weak muscles. Shriners Hospitals for Children is on the leading edge of OI research and actively working towards innovative treatment options to help children with OI.

Osteogenesis imperfecta affects somewhere between 25,000 and 50,000 people in the U.S. It's linked to a number of health challenges and is known for causing low bone density and fragile bones. Scraped knees go hand-in-hand with childhood, but children with OI are at significantly higher risk for breaking bones. OI symptoms and secondary, related conditions can impact growth, development, learning, self-esteem and confidence. Shriners Hospitals for Children delivers compassionate, family-centered care aligned with each individual child's physical, emotional and psychological health care needs.

What causes osteogenesis imperfecta?

The cause of osteogenesis imperfecta can be traced back to genetics; more specifically, a gene defect that influences collagen production. Collagen is a protein that is vital to healthy bone development. With OI, the body either doesn't produce enough collagen, or the collagen that is produced doesn't work properly. Most children with OI inherit the gene defect from one or both parents, but this isn't always the case. Sometimes, the gene simply stops working properly after conception.

Types of osteogenesis imperfecta

Osteogenesis imperfecta treatment is highly individualized, dictated by the type and severity of each case. Shriners Hospitals for Children closely evaluates each and every patient to formulate a treatment plan for their particular needs. This of course, all begins with the proper diagnosis.

Four main types of OI we treat:

  • Type I: The most prevalent type of brittle bone disease, OI Type I results in mild bone fragility and causes some children to have a smaller stature. It isn't uncommon for infants with this type of OI to fracture a bone while learning to walk. Many children also experience easy bruising and some degree of hearing loss.
  • Type II: This kind of OI, triggered by a dominant gene mutation, is one of the most severe. Many newborns with OI Type II have a small chest, soft skull and short limbs, as well as legs that take on frog-like positioning. Respiratory difficulties are also common, making it a life-threatening condition for many.
  • Type III: Infants with OI Type III are typically born having already experienced fractures in utero. A shorter stature, curved spine, rounded rib cage and other bone conditions are characteristic of Type III OI.
  • Type IV: This moderate type of brittle bone disease is associated with smaller stature and can be diagnosed early in life or in later childhood. Many children experience frequent fractures beginning in infancy, while they tend to decrease after adolescence.

Our treatment and management approaches

Osteogenesis imperfecta is a complicated condition. Though there is not a cure for OI, there are multiple methods to help manage the symptoms of the disorder. With proper health care management and risk avoidance, children and adults with OI can lead quite independent and fulfilling lives. The severity and type of brittle bone disease determines the level of care and care management plan.

At Shriners Hospitals for Children, an interdisciplinary team of OI specialists will care for your child. The team may include orthopaedic surgeons, physicians, endocrinologists, neurologists, rehabilitation therapists, pulmonologists and more. 

Prescription medication to increase bone density is a standard treatment for children with OI. Additional care and treatment may include ongoing fracture care, surgery, physical therapy and transitional care skills training:

  • Fracture care: Bracing, splinting and casting can help prevent new breaks of fragile bones or heal broken bones.
    Surgery: Depending on the child, surgery may help in addressing bone repair and stabilization.
  • Physical therapy: The goal of physical therapy is to improve muscle function and promote independent motor skills.
  • Self-management skills: Shriners Hospitals for Children uses technology to teach OI-specific self-management skills and transitional care skills to children of all ages. It's a way to empower children to live a life that isn't controlled by their OI.

Conditions, treatments and services provided may vary by location. Please consult with the Shriners Hospitals for Children location nearest you. See zip code search feature to the right.

Request an Appointment

Most major insurance providers are accepted; however, insurance coverage is not required for care. Any child under 18 with a medical condition or medical need that is within the health care system’s scope of services, is eligible for care. Shriners Hospitals for Children offers financial assistance to those in need.

Find a Location Near You

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22 Locations Across North America

Location Specialties
  • Burn Care
  • Craniofacial and Cleft Lip/Palate
  • Neuromuscular
  • Orthopaedics
  • Orthotics and Prosthetics
  • Pediatric Surgery
  • Spinal Cord Injury
  • Sports Injury and Fractures
  • Therapy and Rehabilitation

Notice: Treatments and services vary by location. Contact nearest hospital for specific details.

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