Osteopetrosis is the marble bone disease which is also termed as ‘Schonberg Disease’. This is the kind of bone disorder where the bones become denser and harder due to genetic factors or even external factors. When compared to other kinds of bone disorders where certain bones become harder while others remain soft, in Osteopetrosis the bones of the entire body becomes denser. The major cause behind this abnormality is an imbalance in the formation or breakdown of bones, directly causing the bones to become dense overly. Even though bones are denser, they are prone to breakage. Most individuals are just born with this congenital condition. If the bone density is too much, it interferes with body tissues and structures. For instance, if there is compression in the skull, this can cause vision …show more content…
But, general symptoms will be noticed in all the forms. They include a reduction in the blood cells, bone fracture and breakage, vision impairment, hearing loss and dental issues relating to infection. Apart from these, an increase in the bone density, brittle bones, easy bone fractures are other symptoms. In fact, bone pain and fracture are the commonest symptoms.
Causes of osteopetrosis
Osteopetrosis is the condition which develops when there is a mutation in one or multiple genes like CLCN7, TCIRG1, TNFSF11, TNFRSF11A, and others. As a result of genetic factors, tumors can appear on the bones leading to fractures.
Diagnosis of Osteopetrosis
If you suspect Osteopetrosis, you should visit your nearest clinic where an x-ray will be performed. The one who has this disease, his bones will have chalky white color and appear a lot denser. Your doctor can prescribe other kinds of tests as well. The condition will be diagnosed with blood tests, CAT or computerized axial tomography.
How to prevent or manage the bone