Osteopetrosis Home A-Z Health Information Health Library A-Z Osteopetrosis Overview Osteopetrosis, also known as marble bone disease, refers to a rare hereditary condition characterised by diffuse and symmetric skeletal sclerosis, which means there is an increase in bone density. This condition is caused by dysfunction of osteoclasts (bone cells). Bones exhibit a ‘stone-like’ quality; however, they are abnormally brittle and can fracture like chalk. Symptoms Weak and brittle bones, dental abnormalities, anaemia, facial palsy, hypocalcaemia Diagnosis Family history, examination, laboratory tests to examine mineral/hormone levels, and imaging tests to evaluate bone structure Treatment Drug therapy including, corticosteroids, physical therapy, and bone marrow transplant for severe cases Disclaimer: The information in this Health Library is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always consult a qualified healthcare professional with any questions about a medical condition or before starting any treatment. Use of this site and its content does not establish a doctor–patient relationship. In case of a medical emergency, call your local emergency number or visit the nearest emergency facility immediately.