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What is Marble Bone Disease?

Description of the disease

Marble bone disease, also known as Osteopetrosis, is a rare genetic disorder characterized by abnormal bone formation. As a result, the bones become too dense and brittle, which can lead to various complications.


  • Severe form
  • Light form
  • Intermediate form


  • Excessive bone fragility
  • Growth delay
  • Teeth problems


Marble bone disease is caused by mutations in genes responsible for the regulation of bone formation and resorption.


The disease can be detected through X-ray examination or genetic analysis.


Treatment aims to alleviate symptoms and prevent complications. In some cases, surgical intervention may be required.


Since the disease is genetic, prevention involves genetic counseling before planning a pregnancy.


This disease is treated by a rheumatologist or geneticist.

Note: This material is provided for informational purposes only and is not medical advice.