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.

Classification

• Severe form
• Light form
• Intermediate form

Symptoms

• Excessive bone fragility
• Growth delay
• Teeth problems

Causes

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

Diagnosis

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

Treatment

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

Prevention

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

Doctor

This disease is treated by a rheumatologist or geneticist.