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Osteopetrosis

Background

Osteopetrosis is general name for a group of rare genetic diseases all of which are characterised by increased bone density. These result from problems in formation or function of osteoclasts, cells which dissolve bone so that it can be reshaped during growth or repaired after injury. The dense bones are prone to fracturing easily. Also, nerves which pass through channels in bone (such as those which pass through the skull to the eye or ear) can be damaged, since these channels do not enlarge as the nerves grow.

What are the symptoms? View What are the symptoms?

Medical text written April 2011 by Dr Colin Steward, Consultant in BMT for Metabolic and Genetic Diseases, Royal Hospital for Children, Bristol, UK and Medical Advisor to the Osteopetrosis Support Trust.

 

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