Osteogenesis Imperfecta

At Rush, you will find all the medical, surgical and supportive services needed to strengthen bones and improve quality of life with brittle bone disease.

At Rush, you will find all the medical, surgical and supportive services needed to strengthen bones and improve quality of life with brittle bone disease.

At Rush, you will find all the medical, surgical and supportive services needed to strengthen bones and improve quality of life with brittle bone disease.

Osteogenesis imperfecta, or brittle bone disorder, is caused by an inherited defect that interferes with the body’s production of type 1 collagen, which your body uses to make bones. Not having enough type 1 collagen can lead to weak and broken bones, brittle teeth, bone loss and pain. Since the disease is genetic, comprehensive genetic testing and counseling is key for accurate diagnosis and treatment.  

Learn more about osteogenesis imperfecta in children.

Signs of Osteogenesis Imperfecta

There are several types of osteogenesis imperfecta. Severe forms are typically diagnosed soon after birth and can be fatal or crippling. If you have a less severe type of brittle bone disease, your symptoms may be milder and may include the following:

  • Fractures starting at an early age, often with little or no trauma
  • Short stature
  • Scoliosis
  • Whites of the eye (sclera) look blue
  • Brittle teeth
  • Progressive hearing loss
  • Hypermobile (loose) joint

Brittle Bone Treatment at Rush

There is no cure for osteogenesis imperfecta. The goal of treatment is to manage symptoms and complications. At Rush, your care may include the following:

  • Orthopedic surgery to correct bone defects or insert rods to prevent the skeleton from bowing
  • Bisphosphonates medicine to strength bones
  • Physical and occupational therapy, as well as low-impact exercise, to build bone and increase muscle strength
  • Treatment of hearing problems
  • Dental implants and other dental treatments
  • Behavioral health counseling to help you with the emotional aspects of living with brittle bone disease
  • Genetic counseling to help you sort through family planning issues with an inherited disorder

A Rush rheumatologist will oversee your care and will coordinate with other specialists at Rush, including endocrinologists, orthopedic surgeons, medical rehabilitation specialists, physical therapists, audiologists, dentists and genetic counselors.

Rush Excellence in Osteogenesis Imperfecta Care

  • A team of experts: A Rush rheumatologist will oversee and coordinate your care. But they will also refer you to a team of experts who can help with specific aspects of treatment. Our team includes endocrinologists, orthopedic surgeons, medical rehabilitation specialists, physical therapists, audiologists, dentists, genetic counselors and others.
  • Recognized for excellence in orthopedic surgery. If you or your child needs surgery to fix broken bones or stabilize your skeleton, you can rest assured that you will be in expert hands. Rush University Medical Center is ranked No. 5 in the nation and best in Illinois for orthopedics by U.S. News & World Report.