Advancing clinical genetics diagnostic skills: Cherubism

Background: Cherubism is a very rare, mostly a childhood condition that can be horribly disfiguring. We have previously reported our extensive experiences with the diagnosis of rare genetic disorders in a plethora of publications. We have previously reported a large number of rare conditions in Iraq, and we have also helped physicians in the diagnosis and publication of rare syndromes observed in other countries. The aim of this papers is to help physicians in advancing the diagnostic skills in the field of clinical genetics by reviewing briefly a rare syndrome that have not been reported in Iraq, but it is associated with certain clinical characteristics that allow an early diagnosis when seen for the first time. Patients and methods: During the last week of January, 2021, several TV channels presented and discussed the problem of two brothers from Egypt who were considered to have a very rare poorly defined condition that has been associated with progressive disfigurement which resulted in embarrassing social encounters. The cases of the two brothers are presented. Results: The older brother aged 15 and the younger brother aged 14 years. Both had abnormal bilateral and symmetric growth of the jaw resulting in a wide jaw appearance and a round and swollen appearance of cheeks. They also had no teeth on the lower jaw and loose or misplaced teeth on the upper jaw. The parents and a third brother were unaffected. Both children didn’t have mental retardation. The older brother had more severe disfigurement, and many people were asking him to remove the mask he is wearing. He also had very poor vision of left eye resulting from the pressure effect and upward displacement of the eye. The younger brother had a surgical operation to remove a benign tumor from the lower jaw which reduced his disfigurement. Conclusion: Awareness of doctors with this condition “Cherubism” is helpful, and denosumab can be tried in severe cases based on the evidence provided by Bar Droma et al (2020).