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.

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.

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.

Because cherubism is a genetic condition, the greatest risk factor is having a parent who has cherubism or is a carrier. If they’re a carrier, they have the genetic mutation but don’t show any symptoms.

Research suggests that among people who have a mutated gene that causes cherubism, 100 percent of males and 50 to 70 percent of females display the physical signs of the condition. This means females can be carriers of the mutation but unaware that they have it. Males can’t be considered carriers, because they always show the physical signs of cherubism.

You can get a genetic test done to find out if you’re a carrier of the SH3BP2 gene mutation. The test results won’t tell you if you’re a carrier for cherubism caused by a different gene mutation, though.

If you have cherubism or are a carrier, you have a 50 percent chance of passing the condition to your children. If you or your partner has the SH3BP2 gene mutation, you might be able to do prenatal testing. Talk to your doctor about your options as soon as you know you’re pregnant.

That said, sometimes cherubism occurs spontaneously, meaning there is a gene mutation but no family history of the condition.

Doctors usually diagnose cherubism through a combination of assessments, including:

If you’re diagnosed with cherubism, your doctor may take a blood sample or do a skin biopsy to test whether the mutation is in the SH3BP2 gene.

To help determine what type of treatment is needed after a cherubism diagnosis, your doctor may also recommend:

  • dental assessment by your dentist or orthodontist
  • ophthalmic eye exam
  • family history assessment, if not part of the initial diagnosis

For some people, surgery to remove the tissue growth is an option. It can help restore your jaws and cheeks to their previous size and shape.

If you have misplaced teeth, the teeth can be pulled or adjusted through orthodontics. Any missing or pulled teeth can be replaced with implants, also.

Children with cherubism should see their doctor and dentist regularly to monitor symptoms and the condition’s progress. It isn’t recommended that children have surgery to remove facial tissue growth until after they’ve gone through puberty.

Talk with your doctor about any concerns you may have. They’ll work with you to develop the best treatment plan for you based on your symptoms and other health factors.

Cherubism affects everyone differently. If you have a mild form, it may be barely noticeable to others. More severe forms are more obvious and can cause other complications. Although cherubism itself is usually painless, its complications may cause discomfort.

Severe cherubism can cause problems with:

  • chewing
  • swallowing
  • speech
  • breathing
  • vision

Cherubism is not usually tied to another condition, but it has sometimes appeared with another genetic disorder. In rare cases, cherubism has been reported alongside:

  • Noonan syndrome, which causes heart defects, short stature, and distinct facial features such as wide-set eyes and low-set ears that are rotated backward
  • fragile X syndrome, which causes learning disabilities and cognitive impairment and usually affects males more severely than females
  • Ramon syndrome, which causes short stature, learning disabilities, and overgrown gums

Your individual outlook will depend on your specific case of cherubism and whether it appears with another condition.

Cherubism isn’t life-threatening and doesn’t affect life expectancy. Many people who have the condition go on to lead active, healthy lives.

The physical effects of cherubism could cause issues with image or self-esteem for some. Kids and teens in particular can struggle with anything that makes them appear different from other people. If you have a child with cherubism, give them the opportunity to talk about how the condition makes them feel. They could talk to you, a school counselor, or a licensed child therapist.

Some adults may find cherubism easier to deal with as they get older because of the reversal or reduction of symptoms that usually happens. Check in with your doctor regularly to monitor your symptoms and the condition’s progress.