What is Osteogenesis Imperfecta?

Osteogenesis imperfecta (OI) is a genetic disorder characterized by bones that break easily. The bones often break from little or no apparent cause.

Most adults and children with osteogenesis imperfecta lead productive and successful lives.

What Causes Osteogenesis Imperfecta?

Osteogenesis imperfecta is caused by a genetic defect that affects the body’s production of collagen. Collagen is the major protein of the body’s connective tissue. When a person has osteogenesis imperfecta, their body produces either less collagen than normal, or a poorer quality of collagen than normal.

Types of Osteogenesis Imperfecta

There are four main types of the disorder

• Type I
  • Most common and mildest type of OI.
  • Bones predisposed to fracture. Most fractures occur before puberty.
  • Normal or near-normal stature.
  • Loose joints and muscle weakness.
  • The whites of the eyes usually have a blue, purple, or gray tint.
  • Triangular face.
  • Bone deformity absent or minimal.
  • Collagen structure is normal, but the amount is less than normal.
• Type II
  • Most severe type.
  • Frequently lethal at or shortly after birth, often due to respiratory problems.
  • Numerous fractures and severe bone deformity.
  • Small stature with underdeveloped lungs.
  • Collagen improperly formed.
• Type III
  • Bones fracture easily. Fractures often present at birth.
  • Short stature.
  • The whites of the eyes have a blue, purple, or gray tint.
  • Loose joints and poor muscle development in arms and legs.
  • Barrel-shaped rib cage.
  • Triangular face.
  • Spinal curvature.
  • Bone deformity, often severe.
  • Collagen improperly formed.
• Type IV
  • Bones fracture easily, most before puberty.
  • Shorter than average stature.
  • Mild to moderate bone deformity.
  • Tendency toward spinal curvature.
  • Barrel-shaped rib cage.
  • Triangular face.
  • Collagen improperly formed.
• Type V
  • Clinically similar to Type IV.
  • Unusually large calluses, called hypertrophic calluses, at the sites of fractures or surgical procedures.
  • Calcification of the membrane between the the bones of the forearm.
  • Restriction of forearm rotation.

Can Osteogenesis Imperfecta be Treated?

Currently, there is not yet a cure for osteogenesis imperfecta. Treatment is directed toward preventing or controlling the symptoms, maximizing independent mobility, and developing optimal bone mass and muscle strength.

The most common treatments are: extensive surgical and dental procedures, and physical therapy. Use of wheelchairs, braces, and other mobility aids are common.

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