Below you will find more information about Cherubism from Medigest. If you believe that you are suffering from any of the symptoms of Cherubism it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Cherubism and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Cherubism comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.


Cherubism is a genetic defect which consists of the protruding bone tissue at the lower part of the face, particularly at the jaws. At the beginning of one's childhood, his upper and lower jaw grow at an abnormal rate and will soon be replaced by cyst-like bones. Because of this sudden enlargement of the jaws, the person's cheeks become swollen and rounded just like that of a cherubim, and will soon face problems with tooth growth. The condition varies among people; some cases of cherubism are quite mild and in fact unnoticeable, but in others the defect is so severe they even encounter difficulties in chewing, talking and seeing. However, these growths become replaced by normal bones as the children enter adulthood, and they will soon have a normal appearance as they reach maturity.


The said disorder is treated by a series of surgeries, orthopedic and ophthalmologic treatments for children between 5 and 15 years of age. A craniofacial team will perform crettage procedures in order to remove the cyst-like growths and reconstruct the jaw bones. Orthopedic treatments meanwhile maintain the bone's structure until such time that the disorder ceases and stops to grow, and ophthalmologic treatments take care of the child's vision as this is also affected by the disorder. For patients above 15 are monitored by long-term clinical visits and other medical evaluations to keep track of their bone development, as cherubism is still under research. Genetic counseling is as well recommended to detect other relatives and potential occurrences of cherubism on future generations.

Symptoms and Signs

People with cherubism do not immediately notice signs of the disorder until the cyst-like bones begin to develop. Cherubism is as well linked to other genetic defects such as the Ramon syndrome and sometimes the Noonan sundrome and fragile X syndrome, but this is not always the case. Unlike these disorders, cherubism does not lead to brain problems like mental retardation and learning disabilities.


Cherubism is brought about by a defect in the SH3BP2 gene. This gene controls the production of a certain protein that sends chemical signals to the cells that remodel the human bones as well as some cells in the immune system. Mutations that occur in the said gene lead to the overproduction of the said protein, and the abnormal process distorts the signals sent to the cells which in turn result to inflammations in the jaw bones. Once the jaw bones are destroyed, they become replaced by the cyst-like bones that enlarge the jaw area.

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