Smileband health topics

What is cherubism?

Cherubism is a rare genetic condition that affects the bones of your lower jaw and sometimes upper jaw. The bones are replaced with cyst-like tissue growths that are not as dense. This makes the cheeks look round and swollen, but it is usually painless. 

About 200 cases of cherubism have been reported worldwide. The condition is usually discovered during early childhood, though symptoms may get better after puberty. 

Keep reading to learn more about how this condition presents, what causes it, and more.  Symptoms

The most common symptoms of cherubism are:

• round, swollen-looking cheeks
• a wide jaw
• loose, misplaced, or missing teeth
• eyes that turn slightly upward (in advanced stages)

People with cherubism show no signs of it at birth. It starts to appear in early childhood, usually between the ages of 2 and 5 years. The tissue growths in the jaw grow rapidly until the child is about 7 or 8 years old. At that point, the tissue usually stops growing or grows more slowly for several years.

When someone with cherubism reaches puberty, the effects of the condition usually begin to reverse. For many people, the cheeks and jaw start to return to their typical size and shape in early adulthood. When this happens, normal bone replaces the tissue growths again. 

Many people show little or no outward sign of cherubism by their 30s or 40s. In some rare cases, though, the symptoms last throughout adulthood and don’t reverse. Causes

Cherubism is a genetic disorder. This means there’s a mutation, or permanent change, to the DNA pattern of at least one gene. Mutations can affect a single gene or multiple genes. 

About 80 percent  of people with cherubism have a mutation to the same gene, called SH3BP2. Studies suggest this gene is involved in creating cells that break down bone tissue. That could be why when this particular gene is mutated, it affects bone growth in the jaws.

In the remaining 20 percent of people with cherubism, the cause is most likely a genetic disorder, too. However, it isn't known which gene is affected.