Worth syndrome, also known as autosomal dominant osteosclerosis and high bone mineral density, is a rare disease caused by a gain-of-function mutation of the low-density lipoprotein receptor-related protein 5 (LRP5) gene leading to endosteal hyperostosis. It is characterized by increased bone density and benign bony structures on the palate, known as torus palatinus. The skeleton is normal in childhood, but facial metamorphoses occur in adolescence, as the mandible becomes elongated and the forehead flattens. Torus palatinus can lead to loss of teeth or malocclusion. We present the case of an 18-year-old female patient found to have a heterozygous variant of the LRP5 mutation on genetic testing. Given the rarity of this disease, long-term sequelae and treatment options are not fully understood.
Keywords: autosomal dominant osteosclerosis; endosteal hyperostosis; high bone mass; mutation of lrp5 gene; torus palatinus.
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