Cherubism is a rare genetic disorder in which the bones of the lower and sometimes the upper jaw are affected. Instead of bones, you have tissue growths that appear like cysts. Due to this, the cheeks appear swollen and round. The condition is not painful.
In many people, the condition reverses itself after puberty and their bone structure grows normally.
Currently, there are nearly 350 known cases of cherubism syndrome in the world. In most cases, symptoms appear between ages 2 and 7.
What Causes Cherubism?
Cherubism is a genetic condition that results from a change or defect in a gene. The gene responsible for cherub syndrome or cherubims is SH3BP2. This gene is present on the fourth chromosome. The cherubism mutation runs in the family.
Cherubism is the result of an autosomal dominant mode mutation. "Dominant" means that a child demonstrates cherubism even if only one parent has the mutated gene. The child inherits the mutated copy and develops the disorder.
Some people with cherubism do not have a parent or family member with the same disease. Their parents have normal gene copies.
In this case, the child develops this condition due to a spontaneous or random mutation early in development. These mutations are called de novo mutations, or "from a new mutation.".
What Are the Symptoms of Cherubism?
The common symptoms of cherub syndrome are a wide jaw, swollen cheeks, missing teeth, upward turning eyes, and roundness in the cheek region. If a child is born with cherubism, they will not show any symptoms of the condition at birth.
Symptoms will become noticeable, sometimes as early as age 2. After these children reach puberty, however, the symptoms typically begin to reverse. The jaw and bone structure return to their typical size and shape.
For some people, this only starts happening when they are in their adult life. For others, the reversal never occurs, and they have the symptoms throughout their lives.
How is Cherubism Diagnosed?
Doctors cannot diagnose cherubism at the time of birth since symptoms don’t show. Later, they diagnose the condition by conducting a physical exam, X-rays, and CT scan. They may also review the family history for indications of an inherited genetic disease.
If your doctor diagnoses you with cherubism, they may also send your blood sample for genetic testing to determine the altered genetic code. The test result will determine if the condition is due to a defect in the SH3BP2 gene or a new mutation.
What Is the Treatment for Cherubism?
Cherubism surgery is an option for people who want to remove the extra growths from the face. It restores the shape of the jaw and the cheeks, bringing them back to their regular size. Children are generally not recommended to get surgery for tissue removal. Once the child has gone through puberty, you can talk to your doctor about cherubism surgery.
Some people with cherubism also have missing or misplaced teeth. A periodontist can adjust these teeth or replace the misplaced teeth with implants. If your child has cherubism, make sure they receive good oral care.
Cherubism has a different effect on everyone. For some people, it may cause breathing, swallowing, and chewing problems. If you have these symptoms, your doctor will recommend you go to a speech therapist.
If you have any additional concerns, talk to your doctor. They will work with you to find the best treatment plan according to your age and symptoms.