Literally translated, Osteogenesis Imperfecta means “imperfect bone formation”. While there are four types of Osteogenesis Imperfecta, also known as brittle bone disease, type one is the most common and least severe of the bunch. The disorder affects 1 in 10,000 individuals worldwide.
Brittle bone disease is a genetic disorder caused by an autosomal dominant pattern. Symptoms of Osteogenesis Imperfecta include easily fractured and brittle bones in early childhood and adolescence. Bone fractures occur with little trauma due to less collagen than normal. Sufferers of Osteogenesis Imperfecta also experience brittle teeth and hearing loss that usually begins in their late teens or early twenties. Someone affected by Osteogenesis Imperfecta will also bruise easily, tends to be shorter than average, and may have a blue or grey tint in the part of the eye that is supposed to be white.
While most bone fractures occur before puberty, there can be a reoccurrence of fractures after a woman goes through menopause or a man reaches the age of 60. There are several medications going through clinical trials now that will improve bone strength and density. This will hopefully decrease the amount of fractures that occur. Promising work is also being done with gene therapy that can potentially eliminate Osteogenesis Imperfecta from occurring.
Because this is a genetic disorder there is no known treatment that is capable of curing Osteogenesis Imperfecta altogether. Treatments are designed to manage the effects caused by the disease. Some of these treatments include physical therapy, dental care, braces and splints, positioning aids to help a child sit or stand correctly. Other medical treatments include placing rods along long bones to stabilize them, caring for fractures, and in some cases surgery may be done to aid in scoliosis or heart problems.
Those with type 1 Osteogenesis Imperfecta are usually able to lead healthy lives well into adulthood. It is not recommended that they reproduce because they have a 50% chance of passing the disorder on to their children.
Those with type 2 Osteogenesis Imperfecta, the most severe form of the disorder, rarely live long enough to be able to pass the disease on to their offspring. Sufferers of type 2 Osteogenesis Imperfecta experience multiple fractures while still in the womb, causing some to die while being delivered. Most have severe respiratory problems due to undeveloped lungs.
It is important to realize that Osteogenesis Imperfecta is a life-long and progressive disease that must be maintained in order to prevent or minimize deformity or other complications. If you are a parent of a child with Osteogenesis Imperfecta you can find additional resources at the Osteogenesis Imperfecta Society.