Fibrous dysplasia (FD) of the jaw also known as cherubism, is a bone disorder in which the jawbone is replaced by fibrous (containing fiber) tissue. This makes the jaw weaker and more prone to breakage. The bones affected are the maxilla and mandible, the bones of the upper and lower jaw. Symptoms of FD of the jaw include abnormal expansion of the jaw bone, swelling of the face, and sometimes upturning of the eyes. Symptoms of this condition usually begin to appear between ages 3 and 4.
FD of the jaw is mainly due to mutations (changes) in the SH3BP2 gene. We inherit our genes in pairs, one from each parent typically. The SH3BP2 gene is inherited in an autosomal dominant manner, meaning an individual only needs one copy of the changed gene to have the condition. Usually, a rare condition like this is inherited from one parent. If one parent is a carrier for the mutated gene, children have a 50% chance of having the condition. While all males with a mutation in the SH3BP2 gene will have the condition, only 50 to 75% of females with the mutation will have the condition.
Treatment depends on the severity of symptoms in a particular individual. Treatment is usually aimed at correcting the jaw so that it can work properly. Surgically removing the affected bone tissue may be an option.
If you or a family member has been diagnosed with fibrous dysplasia of the jaw, talk to your doctor about the most current treatment options. Support groups are also a good source of information.
Description Last Updated: Aug 29, 2018