Description

This 16-year-old boy has bone deformities in both his shinbones that have not yet been straightened with surgery.

Courtesy of Texas Scottish Rite Hospital for Children.

Osteogenesis imperfecta is relatively rare. Approximately 20,000 to 50,000 people in the United States have the condition.

In many children with osteogenesis imperfecta, the number of times their bones fracture decreases significantly as they mature. However, osteogenesis imperfecta may become active again after menopause in women or after the age of 60 in men.

Scoliosis, or curvature of the spine, is a problem for many children with osteogenesis imperfecta.

There are several types of osteogenesis imperfecta and they vary in severity and characteristics. As scientists have discovered new genetic problems causing OI, new types of the disorder have been recognized. All types of the disorder, however, have symptoms and severity that fall somewhere within the range of the first four types recognized. These four types are described below.

Type I Osteogenesis Imperfecta

Type I osteogenesis imperfecta is the most common and mildest type of this disease. While the structure of the collagen is normal, there is less collagen than there should be. There is little or no bone deformity, although the bones are fragile and easily broken. The effects of osteogenesis imperfecta may extend to the teeth, making them prone to cavities and cracking. The whites of the eyes may have a blue, purple, or gray tint.

Type II Osteogenesis Imperfecta

Type II osteogenesis imperfecta is the most severe form of the disease. The collagen does not form properly. Bones may break even while the fetus is in the womb. Many infants with type II osteogenesis imperfecta do not survive.

Type III Osteogenesis Imperfecta

Type III osteogenesis imperfecta also has improperly formed collagen and often severe bone deformities, plus additional complications. The infant is often born with fractures. The whites of the eyes may be white, blue, purple, or gray. People with type III osteogenesis imperfecta are generally shorter than average. They may have spinal deformities, respiratory complications, and brittle teeth.

Type IV Osteogenesis Imperfecta

Type IV osteogenesis imperfecta is moderately severe, with improperly formed collagen. Bones fracture easily, but the whites of the eyes are normal. Some people with type IV osteogenesis imperfecta may be shorter than average and may have brittle teeth. Bone deformities are mild to moderate.