What causes osteogenesis imperfecta?

Osteogenesis imperfecta (OI) happens when the body does not produce enough collagen or creates poor-quality collagen. As a result of the condition, the body's bones are more likely to fracture because they lack tensile strength and flexibility.

OI, however, affects more than bone tissue. Poor-quality or insufficient collagen also can make brittle teeth, cartilage, and other forms of connective tissue. The presence of collagen in the white portion of the eye, known as sclera, is also susceptible to the effects of OI. Someone with the disorder may develop a gray or blue hue in this portion of his or her eyes.

The disorder can even lead to early hearing loss, if a person with OI sustains a fractured stapes. The stapes, one of the smallest bones in the body, plays a vital role in transmitting sound waves to the eardrum.

OI, a genetic condition, happens when a parent passes on the gene to a child, or when the genes mutate spontaneously. Of eight types of OI identified by doctors, six involve a dominant mutation. This means that only one parent has to pass on the OI gene. Two varieties, however, involve a recessive mutation, which means both parents have to pass on the gene. OI is considered a rare condition, but it affects roughly 20,000 to 50,000 people in just the United States.

Osteogenesis imperfecta (OI) occurs when a gene isn't working properly and affects a person's ability to build strong bones. Different genes are responsible for different types of OI, but the main thing affected by these genetic defects is the body's ability to produce collagen, the material responsible for strong, healthy bones. The genetic mutations responsible for OI impair a person's ability to create enough collagen, or to create strong collagen. Either way, the result is fragile, brittle bones.

Continue Learning about Autosomal Dominant Genetic Disorders

What is familial hypercholesterolemia?
Learn Your LipidsLearn Your Lipids
Familial hypercholesterolemia, also known as FH, is a genetic disorder which causes severely elevate...
More Answers
What is central core disease?
Darshan N. Shah, MDDarshan N. Shah, MD
Central core disease is a hereditary muscle disease which is present at birth and is characterized b...
More Answers
If someone with TSC has a tuber in the brain removed, can it grow back?
Dr. Aria Fallah, MDDr. Aria Fallah, MD
In people with tuberous sclerosis complex (TSC), tubers generally don't tend to grow back after remo...
More Answers
For people with tuberous sclerosis, why does the whole tuber need removal?
Dr. Aria Fallah, MDDr. Aria Fallah, MD
For people with tuberous sclerosis (TSC), the whole tuber needs to be removed because incomplete res...
More Answers

Important: This content reflects information from various individuals and organizations and may offer alternative or opposing points of view. It should not be used for medical advice, diagnosis or treatment. As always, you should consult with your healthcare provider about your specific health needs.