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Brittle Bone Disease

Conditions

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Osteogenesis Imperfecta (OI) is a disorder which causes the bones to break easily. It is also called "brittle bone disease." OI affects a person throughout his lifetime.  

At this time, there is no cure. OI is caused by a mutation on a gene that affects the body’s production of the collagen found in bones and other tissues. OI is not caused by too little calcium or poor nutrition.  

OI can be mild to severe. A person with mild OI may experience a few fractures while those with the severe forms may have many in a lifetime.

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Patients can be seen by Texas Children's experts in Orthopedics.

Causes & Risk Factors

Osteogenesis Imperfecta  is an inherited disorder.

Symptoms & Types

Symptoms may include:

  • Fractures
  • Fatigue
  • Short stature
  • Discoloration of the white part of the eyes (blue sclerae)
  • Brittle, discolored teeth (dentinogenesis imperfecta)
  • Curvature of the spine (scoliosis) and curved bones
  • Bowing of limbs
  • Inability to tolerate heat
  • Weak tissues, fragile skin, muscle weakness and loose joints
  • Hearing loss beginning in early adulthood
  • Breathing problems, higher incidence of asthma plus risk for other lung problems
  • Bleeding, easy bruising, frequent nosebleeds and, in a small number of people, heavy bleeding from injuries.

Diagnosis & Tests

Doctors may use X-rays, genetic testing or a family tree analysis to diagnose OI.

Before an appropriate diagnosis is made this disease can be mistaken for child abuse.

Treatment & Care

Treatment may include:

  • Splints or wraps for broken bones with occasional use of casts
  • Braces to support legs, ankles, knees and wrists as needed
  • Orthopedic surgery, often including implanting rods to support the long bones in arms or legs
  • Use of mobility aids such as canes, walkers, or wheelchairs and other equipment or aids for independence may to compensate for weakness or short stature
  • Medications to strengthen bones
  • Physical therapy and safe non-contact exercise

Living & Managing

Despite the challenges of managing OI, most people lead productive and successful lives.

References & Sources

Interdisciplinary Treatment Approach for Children with Osteogenesis Imperfecta (http://shriners-genetics.mcgill.ca/pages%20folder/pages_e/oibookcontent…)

Children with osteogenesis imperfecta : strategies to enhance performance / [edited by] Holly Lea Cintas and Lynn H. Gerber