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Definition of Pycnodysostosis

Medically reviewed by Dr. Otari Nergadze, Neurosurgeon | Updated: January 2026

Pycnodysostosis: An inherited disorder of bone that causes short stature and abnormally dense brittle bones. Pycnodysostosis can be due to a defect in the enzyme cathepsin K. Sometimes spelled pyknodysostosis. The French artist Toulouse-Lautrec is thought to have had this disease. No specific treatment is available.