Cherubism

What is cherubism?

Cherubism is a rare genetic disorder in which abnormal tissue replaces healthy bone tissue in your child’s jaw. The abnormal tissue isn’t cancerous or painful. But it causes your child’s jaw to grow wider on both sides and makes their cheeks round and puffy. Your child may also have missing or abnormally developed teeth. Cherubism doesn’t affect other bones in your child’s body, just those in their jaw.

Signs and symptoms don’t appear right after birth. Instead, they usually develop between the ages of 2 to 7. The severity of the condition can vary widely. Some children have no symptoms at all, or symptoms that are mild and barely noticeable. However, in more severe cases, the condition may make it hard for a child to speak, swallow or breathe.

Cherubism usually goes away on its own by adulthood without treatment. Healthcare providers keep an eye on the condition and will recommend treatment if it causes severe symptoms or greatly interferes with your child’s quality of life. 

How common is cherubism?

Cherubism isn’t common. Researchers don’t know exactly how many people have it, but they’ve made estimates based on published medical articles. A 2019 study identified 513 cases of cherubism reported in medical literature to date.

What are the signs of cherubism disease?

Signs of cherubism typically include:

• A lower jaw (mandible) that’s wider than expected.  
• Cyst-like growths in your child’s jaw area.
• Round, puffy cheeks.
• Teeth that are misshapen, missing or impacted (unerupted).

Some children also have:

• Eyes that bulge outward and seem to look upward. The white part (sclera) is visible below the iris.
• Vision that’s poor or slowly worsens because the extra tissue in the upper jaw is interfering with the eyeball and its nerves.
• Mouth breathing.
• Snoring.
• Obstructive sleep apnea.
• Trouble speaking or swallowing.

What causes cherubism?

Mutations to the SH3BP2 gene cause most cases of cherubism (over 90%).

The SH3BP2 gene tells your body how to make the SH3BP2 protein, which plays a role in replacing old bone tissue with new bone (bone remodeling). Mutations cause your body to make too much SH3BP2 protein.

Too much of this protein leads to inflammation in your jaw bone and increased production of osteoclasts. Osteoclasts are cells that do the important job of breaking down bone tissue when your body doesn’t need it anymore. But in excess, osteoclasts start breaking down bone tissue in your jaw when they’re not supposed to. This abnormal bone loss, combined with inflammation from excessive SH3BP2 protein, causes cyst-like growths to develop in your jaw. These growths gradually get bigger and cause the typical features of cherubism.

Some children with cherubism don’t have SH3BP2 mutations. In these cases, other genetic mutations may be responsible, but researchers don’t yet know the exact ones.

Is cherubism inherited?

Yes. Most children inherit a genetic mutation that causes cherubism. The condition follows an autosomal dominant pattern of inheritance.

However, some children have no family history of the condition. Instead, they have what researchers call a de novo mutation. This is a genetic change that appears for the first time in someone without any family history. 

So, while cherubism is usually inherited, that isn’t always the case. Healthcare providers consider cherubism as a possible diagnosis even if no one else in their family has the condition.

What conditions are associated with cherubism?

Some children have cherubism as part of another genetic disorder. Associated disorders include:

• Fragile X syndrome.
• Jaffe-Campanacci syndrome.
• Neurofibromatosis type 1.
• Noonan syndrome.
• Ramon syndrome.

In these cases, mutations to the SH3BP2 gene aren’t the cause of cherubism. Instead, other genetic changes related to the specific syndrome are responsible.

How do healthcare providers diagnose cherubism?

Healthcare providers diagnose cherubism by:

• Doing a physical exam to look for clinical signs of cherubism (like an unusually wide jaw, missing teeth or teeth issues).
• Ordering imaging tests, like X-rays or CT scans (computed tomography scans).
• Ordering genetic testing to look for mutations.

Providers must rule out other conditions, like fibrous dysplasia or aneurysmal bone cysts, that have similar signs and symptoms. They also look for signs that cherubism is occurring as part of a genetic syndrome.

What is the treatment for cherubism?

Most children don’t need treatment for cherubism. Pediatricians often take a “wait and see” approach. This means they keep an eye on things and see how the condition progresses. Most often, the abnormal tissue grows until puberty, remains stable for a few years and then starts to get smaller. The signs of cherubism usually go away during early adulthood.

Your pediatrician may recommend surgery if your child has issues like not being able to eat or breathe easily. But healthcare providers usually don’t recommend surgery until the abnormal tissue stops growing. At that time, a person who still has symptoms and wants to change how their face looks may consider surgery. Reconstructive surgery can help reshape a person’s face to achieve their desired appearance.

Supportive treatments

Cherubism can affect many aspects of your child’s life, particularly if the condition is more severe. As a result, your child may need treatments tailored to their needs. Possible treatments include:

• Dental treatment. Children with cherubism may need dental work, like tooth extraction or implants. Once the cyst-like growths start getting smaller, your child may need orthodontics.
• Visual support. Severe cases of cherubism may affect your child’s vision. An eye care specialist can assess your child’s vision and find the best solution for their needs.
• Help with speaking and swallowing. A speech-language pathologist (SLP) can help your child if they have trouble with speaking and/or swallowing.
• Psychological support. Cherubism may affect your child’s self-esteem. It’s important to talk to your child about how they feel and how the condition affects their sense of self. They may benefit from talking to a child psychologist about their feelings.

Can cherubism be prevented?

Healthcare providers don’t know of any way to prevent this condition. If cherubism runs in your biological family, you may wish to seek genetic counseling prior to pregnancy.

What is the outlook for people with cherubism?

Most people outgrow noticeable cherubism symptoms by the time they’re 30. By that point, normal bone tissue replaces the abnormal tissue.

Rarely, signs of cherubism linger further into adulthood. If this happens, a healthcare provider will offer guidance and support.

How can I take care of my child:

If your child has cherubism, be sure to: 

• Take them to see a pediatrician regularly. Your pediatrician will tell you how often to come in.
• Take them for eye exams according to the schedule their provider recommends.
• Provide emotional support to your child.

When should I call a healthcare provider?

Call your pediatrician if your child has:

• Breathing problems, including snoring or sleep apnea.
• Difficulty swallowing.
• Speech problems.
• Vision problems.

How did cherubism get its name?

Dr. William A. Jones named this condition in 1933. He chose the name “cherubism” to capture the clinical signs of this condition, which include full cheeks and, sometimes, eyes that appear to gaze upward. He believed these features resembled those of a cherub, or a celestial being that appears in art and various religious traditions. The name has stuck around ever since.

A note from Cleveland Clinic

Learning your child has a rare condition can come as a shock. In the case of cherubism, the signs don’t appear right after birth. So, noticing changes in your child’s face, or learning of changes from their healthcare provider, may worry you. Rest assured that most cases of cherubism resolve on their own by the time your child reaches adulthood. In severe cases, healthcare providers can offer treatment to manage cherubism’s effects. Giving your child plenty of love and emotional support can help them get all the care they need to enjoy childhood and adolescence to the fullest.