Other Metabolic Bone Diseases

Metabolic bone diseases are caused by congenital defects of bone cells, or by factors (hormonal or tumoral) that alter bone cell function. The result is abnormal development of the skeleton and/or inability to maintain healthy bones. Many of these rare diseases are hereditary, caused by genetic mutations that can be passed on to children of affected patients; others are acquired, meaning that they occur after birth, though the cause remains unknown for many of these disorders.

Conditions in which skeletal development is compromised result in misshapen bones, and are called skeletal dysplasias. In other cases, the organic component of the bone tissue is affected, leading to decreased bone strength, as in the case of osteogenesis imperfecta. In more rare cases, genetic defects can cause the bones to become very thick but malformed and brittle, as in the case of osteopetrosis. In other conditions, deposition of bone mineral is impaired, leading to bones that are too flexible and weak; these conditions are called rickets, when they develop in children, or osteomalacia, when the causing factor affects adults.


X-rays of the legs of a patient with osteomalacia from chronic vitamin D deficiency. Note the bowed legs and signs of previous fractures at the distal end.

In the recent past, one of the most frequent causes of rickets and osteomalacia was nutritional deficiency of vitamin D, most frequently seen in people living in areas with low sunlight during the winter, typically at northern latitudes. Widespread use of vitamin supplements has greatly reduced these problems. Sadly, however, we still see a significant proportion of people living in sunny areas, such as the Midwestern U.S., with vitamin D deficiency or insufficiency because of poor dietary habits. This can lead to weak bones and fractures.

The Bone Health Program specialists are uniquely trained and experienced to provide consultation and recommendations for any kind of metabolic bone diseases, in children and adults.

To schedule an appointment or refer a patient, please call 314-454-7775. Offices are open Monday-Friday, 8 a.m.-4:30 p.m.

Visit the links below for more information on a specific disease. If you cannot find what you are looking for, feel free to contact us; or visit the National Organization for Rare Disorders website.


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