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Osteogenesis Imperfecta (OI) is a skeletal disease commonly known as the "brittle bone" disorder is a genetic disorder characterized by bones that break easily, often from little or no apparent cause. A person with Osteogenesis Imperfecta may break a rib while coughing or a leg by rolling over in their sleep.

The bones of a person with Osteogenesis Imperfecta are less dense and break easily. Sometimes the bones break for no known reason. Osteogenesis Imperfecta can also cause weak muscles, brittle teeth, a curved spine and hearing loss. The cause is a gene defect that affects how you make collagen, a protein that helps make bones strong. Usually you inherit the faulty gene from a parent. Sometimes, it is due to a mutation, a random gene change.

Osteogenesis Imperfecta is a group of genetic disorders that mainly affect the bones. The term Osteogenesis Imperfecta means imperfect bone formation. People with this condition have bones that break easily, often from mild trauma or with no apparent cause. Multiple fractures are common, and in severe cases, can occur even before birth. Milder cases may involve only a few fractures over a person's lifetime.

Type I is the mildest form of Osteogenesis Imperfecta and type II is the most severe; other types of this condition have signs and symptoms that fall somewhere between these two extremes. Increasingly, genetic factors are used to define the different forms of Osteogenesis Imperfecta.There is no cure, but you can manage symptoms. Treatments include exercise, pain medicine, physical therapy, wheelchairs, braces and surgery.

Osteogenesis Imperfecta affects as many as one in ten thousand people. There are approximately fifty thousand or more people in the United States alone who have it. Osteogenesis Imperfecta has been documented in all ethnic groups, and affects a person throughout their lifetime

Individuals with Osteogenesis Imperfecta have average and above intelligence and often want to go to college. Accessibility is the key factor in choosing an appropriate facility. Individuals with Osteogenesis Imperfecta not only endure, but persevere. They often develop a determination and tenacity far beyond that of a person who has never had to overcome seemingly insurmountable odds. People with Osteogenesis Imperfecta develop an incredible sense of self determination and self reliance.

The majority of individuals with Osteogenesis Imperfecta develop an incredible understanding of and sensitivity to the physical and emotional needs of others, for they have suffered many of the same problems at a younger age. However, they have a practical and matter of fact approach to problem solving. Rather than sympathy, they give practical advice and assistance with a “learn to suck it up and deal with it” attitude.

Osteogenesis Imperfecta is relatively rare. In some cases, the parent has Osteogenesis Imperfectaand the condition has been genetically transmitted to the child. But, the child's symptoms and the degree of disability could be very different from that of the parent. In some children, neither parent has Osteogenesis Imperfecta. In these cases, the genetic defect is a spontaneous mutation.

Osteogenesis Imperfecta is a rare and challenging disease. Medical knowledge of this disease and progress in diagnosis and treatment has grown slower over the years. Shriners Children's Hospitals and the Osteogenesis Imperfecta Foundation, (OIF), have facilitated conferences and events at which individuals with Osteogenesis Imperfecta can meet and learn from each other and from leading medical specialists in the fields of genetics and orthopedics. Encouragement for people with Osteogenesis Imperfecta to become independent is increasing. Young persons with Osteogenesis Imperfecta today have role models for independence and self-reliance.Link

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