Brittle bones

Osteogenesis imperfecta (OI), also known as brittle-bone disease, is a genetic (inherited) disorder characterized by bones that break easily without a specific cause. An estimated 20,000 to 50,000 people in the U.S. have this disease. OI can affect males and females of all races. What causes osteogenesis imperfecta? The following are the most common symptoms for OI. However, each child may experience symptoms differently. Although symptoms may vary, generally they are used to classify the eight forms of OI, each of which represents varying grades of severity of the condition. According to the Osteoporosis and Related Bone Diseases National Resource Center, part of the National Institutes of Health, the types of OI and their symptoms include: Type I • Most common • Mildest form • Bones fracture easily • Can usually be traced through the family • Near normal stature or slightly shorter • Blue sclera (the normally white area of the eye ball) • Dental problems (brittle teeth) • Hearing loss beginning in the early 20s and 30s • Most fractures occur before puberty; occasionally women will have fractures after menopause • Triangular face • Tendency toward spinal curvatures Type II • Most severe form • Newborns severely affected; frequently fatal, although a few have lived to adulthood • Severe bone deformity with many fractures • Usually resulting from a new gene mutation • Very small stature with extremely small chest and under-developed lungs Type III • Bones fracture very easi...

Author • Kerrie Sanders Professor -Musculoskeletal Science, Nutrition and Health economics, IHA, Australian Catholic University Disclosure statement Kerrie Sanders has previously received an Honarorium from Sanofi Pty Ltd for presenting on the Burden of Osteoporosis. She has previously received several project grants from the National Health and Medical Council. One of these projects on the burden of disease study on osteoporosis received supplementary funding from Merck Pty Ltd. Prof Saanders is a member of the scientific advisory committees for both Osteoporosis Australia andfd the International Osteoporosis Foundation. Partners The Conversation UK receives funding from these organisations View the full list What is osteoporosis? Osteoporosis is a condition in which bones become fragile and brittle, leading to higher risk of breakage. This occurs when bones lose minerals such as calcium more quickly than the body can replace them. In Australia, osteoporosis affects Referred to as a “silent” disease, osteoporosis generally has no symptoms and is rarely diagnosed until bones break or fracture. Osteoporosis is the disease and fractures are the outcome we are trying to prevent. Why do we get osteoporosis as we age? Our bones are living tissue and are in a continual state of renewal. As we age, more bone is broken down (resorbed) than is replaced by new bone. Thus our bones get thinner and more fragile as we age. This is particularly true during menopause for women and in men...