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Osteogenesis Imperfecta

Osteogenesis Imperfecta (OI) means “imperfectly formed bone.” Affecting 20,000–50,000 people in the US, this is a relatively rare genetic condition. This disorder affects their body’s ability to make bones. For some people their severe form of OI results in weak brittle bones that break easily. However, for many people with OI, they will have a milder forms, going through life with only a few fractures.

What causes Osteogenesis Imperfecta?

OI is a genetic disorder in which one of the genes that is used to produce a specific protein, type 1 collagen, does not function normally. Type 1 collagen is a major component of connective tissues found in the bones, ligaments, teeth, and whites of the eyes. In OI a patient will either inherit a defective gene from one of their parents or have a spontaneous change in the gene which affects collagen production.

Symptoms of Osteogenesis Imperfecta

Depending on the severity of the defect, patients can display a range of symptoms. However, all patients with OI will have abnormally weak bones.

Common symptoms include:

  • Short stature
  • Triangular-shaped face
  • Breathing problems
  • Hearing loss
  • Brittle teeth
  • Bone deformities, such as bowed legs or scoliosis

Types of Osteogenesis Imperfecta

Type I
The most common and mildest form of OI, characterized by the body producing normal collagen, but not enough required for strong bones. People with this form will have little or no bone deformity, but will be more prone to fractures. Also, the strength of teeth can be affected, and the whites of the eyes can appear to have a blue, purple or grey tint. 

Type II
The most severe form of OI. Affecting the formation of normal collagen formation, bones can break as easily even as early as in the womb. Many infants with this form of OI will not survive past infancy.

Type III
A severe form of OI also caused by improperly formed collagen, it will often be characterized by severe deformities along with additional complications. People with Type III often are born with fractures, have a blue, purple, or grey tint to the whites of the eyes along with spinal deformitites, respiratory complications, and brittle teeth.

Type IV
A moderately severe form of OI also caused by improperly formed collagen. Bone deformities will be mild to moderate, and people will be more prone to bone fractures and brittle teeth. The whites of the eyes will be normal, and some people will be shorter than average.

Treatment Options

While there is no cure for OI, there are ways and treatments to improve the child’s quality of life.

NON-SURGICAL TREATMENT

Medications – Different medications can be prescribed to slow down bone reabsorption and ultimately reduce the number of fractures in serve cases of OI
Immobilization – Following a fracture, either by casting or bracing can be used to allow the bones to heel properly
Exercise – Low impact activity can help to strengthen bones and the muscles around the bones

SURGICAL TREATMENT

Surgery can be recommended for people with:

  • Repeated fractures of the same bone
  • Fractures that do no heal properly
  • Bone deformities

Rodding – Metal rods are inserted into the bone to help stabilize the long bones of the arms and legs. Rods can either be a fixed length that are replaced as a child grows or they can exandable and be lengthened over time.