What is Osteogenesis Imperfecta Type 3?

posted: 05/11/16
by: Mara Betsch

Tiffany And Destiny Meet for the First Time

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Tiffany and Destiny, who both have been diagnosed with Osteogenis Imperfecta Type 3, meet for the first time.

So far on "Two in a Million," you met Owen and Giovanni, who have Schwartz Jampel Syndrome, Tiffany and Yajaira, who have Jarcho-Levin Syndrome, Austin and Elena, who have Goldenhar Syndrome, Bobbi and Kenny, who have Lamellar Ichthyosis, and Andrew, Brandon, and Joshua, who have Ectodermal Dysplasia.

Tonight, you'll meet Destiny and Tiffany, both 21, who have Osteogenesis Imperfecta Type 3. Learn all about this rare condition and how these women live with it every day.

What is Osteogenesis Imperfecta Type 3?

As the name implies, this genetic disorder affects the bones. Patients' bones form improperly, leading to brittle, easily broken bones, and fractures can occur with very little (if any) trauma. The disease is diagnosed with types I through VIII, with type I being the most mild and type II being the most severe. Type III is somewhere in-between. Fractures are common at birth, and Destiny had 26 broken bones when she was born!

What causes it?

Imperfect Type III is a genetic disorder. Type III is an autosomal recessive genetic disorder, which means that a patient must inherit the same defective gene from both parents in order for them to get the disease. If both parents are carriers, there's a 25 percent chance the child will have the gene, a 50 percent chance they'll be a carrier, and a 25 percent chance they'll be genetically normal.

What are the symptoms?

As we mentioned above, the main symptoms include fragile, malformed bones, which break very easily. Patients are often short in stature, have curved spines, and may develop respiratory issues. Tiffany says she lost count after breaking 300 bones -- she's even broken bones hiccuping!

How rare is it?

While the number of people affected in the United States is unknown, research suggest that between 20,000 and 50,000 have the condition.

Is there a treatment?

There is no cure, but exercise and physical therapy programs may help some patients strengthen their muscles. Metal rods can be placed in long bones to prevent fractures, and braces can be worn as protective gear. Surgery and dental procedures can be done on a case-by-case basis, depending on the severity of the disease.

If you'd like to learn more about Osteogenesis Imperfecta Type 3 or other rare diseases, the Genetic and Rare Diseases Information Center can help. You can visit their website, call their toll-free number 888-205-2311, or contact them through this form.