Spotlight on Cherubism As part of our Complex Surgical Mission, we treat patients who have very severe cases of facial disfigurement. Some of these include Noma, large facial tumours known as Ameloblastomas, Trismus (Lockjaw) and abnormal bone tissue growths such as Cherubism. This article discusses Cherubism, a rare genetic condition which has affected some of our patients. What is Cherubism? Cherubism is the growth of abnormal bone tissue on the lower part of the face. This rare genetic disease results in the enlargement of both the upper and lower parts of the jaw. The bone soon begins to be replaced with cyst-like growths, resulting in swollen and round cheeks which are usually painless. What causes Cherubism? Cherubism is a genetic disorder - it is caused by a mutated gene called SH3BP2. It has been suggested that this particular gene is involved in creating the cells that break down bone tissue, therefore, if there is a dysfunction in this gene, there will be an abnormal increase in cell growth, leading to the bone growths commonly seen in the jaw. What are the symptoms of Cherubism? The common symptoms associated with Cherubism are: Swollen or round cheeks A widened jaw Missing/ loose teeth People who have the genetic disorder will normally not show signs at birth – these will only become visible between the ages of two to five years old, and the cyst-like growths will develop until the child is eight years old. At this point, the tissue will either stop growing or will progress very slowly for several years. However in some cases, it is common for the condition to reverse at the onset of puberty, which causes normal bone to replace the tissue growth, returning the jaw to its typical size. Who is usually affected by Cherubism? As Cherubism is a genetic disorder, the greatest risk of acquiring the disease is having a parent with Cherubism or a parent who is a carrier of the gene. Males are predominantly affected by the condition compared to females. How is Cherubism diagnosed? Cherubism is diagnosed through a range of different assessments. These include: A physical examination A review of the family history CT scan X-ray For a definitive diagnosis, a skin biopsy or a blood sample may also be taken to examine if the mutated gene is present. What are the effects of living with Cherubism? As the jaw enlarges, normal tooth development can be affected, and in many severe cases, the disease may cause problems with vision, breathing, speech and swallowing. Our role in treating patients with Cherubism Twelve year old Hafis first came to us in 2016 with a small tumour that had been growing on his upper and lower jaw from the age of three. When Hafis returned to us two years later, it became apparent that the physical effects of his Cherubism were increasing rapidly - there were no signs of the condition reversing. He struggled to breathe, talk, eat, and additionally suffered from a lot of pain. He also had missing teeth, resulting in him eating soft foods only. We operated on Hafis, removing the excessive bone tissue - the results were phenomenal! Hafis no longer covered his face, he could eat properly and close his mouth. Prior to his surgery, he had faced isolation due to stigma and discrimination; he has now returned to school as a happy, confident young boy. Please consider donating to help more children like Hafis here.