Cherubism, characterized by bone resorption limited to either side of the jaws, is a rare bone dysplasia that leads to facial swelling. The swelling is symmetrical, hard, and painless. The disorder typically begins in childhood and then slowly decelerates, stopping at puberty. Studies have reported the existence of both mild and severe cases of cherubism. It can be caused by various types of genetic mutation. Most of them are point mutations and can be transitions, translations, or deletions. The type of mutation will determine whether the condition is mild or severe. It is important to know and understand the genetic factors of cherubism to determine the correct diagnosis and treatment plan for the disease. In this paper, we will discuss the etiology, manifestation, pathophysiology, and genetics of cherubism.
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