“Osteogenesis imperfecta (OI), also known as brittle bone disease, is a rare genetic disorder characterized by fragile bones that fracture easily, often with little or no trauma. It results from defects in type I collagen production or quality.

Global prevalence

• The condition occurs in about 1 in 10,000 to 1 in 20,000 births worldwide biologyinsights.com+2.
• This translates to an estimated ~72,400 prevalent cases globally in recent years DelveInsight.

U.S. prevalence

• In the United States, the number of people living with OI is estimated at 25,000 to 50,000 biologyinsights.com+2.
• This range reflects challenges in diagnosing milder forms, which may go undetected.
• In 2023, U.S. prevalence data showed roughly 15,000 Type I, 3,300 Type II, 1,500 Type III, 2,800 Type IV, and ~4,800 “others” cases DelveInsight.

Incidence

• The incidence rate (new cases per year) is about 1 in 15,000 to 1 in 20,000 births worldwide biologyinsights.com+1.
• This rate is similar for both severe and milder forms of OI, as milder cases may not be diagnosed until later in life.

In summary, OI is a rare but significant genetic disorder, with ~72,000 people worldwide and ~25,000–50,000 in the U.S. living with the condition at any given time.”

Biology Insights (Osteogenesis Imperfecta Statistics: Prevalence and Types – Biology Insights)