Is your child's face changing or jaw looking wide? Discover what cherubism is and how it heals naturally.

You might feel worried if your young child's face shape changes or their cheeks look puffy. Or perhaps a doctor mentioned a difference in your child's jaw during a routine checkup. This rare condition is called cherubism, and while the name sounds unusual, we can break it down into simple terms.

Cherubism is very uncommon, but knowing about it helps you understand what is happening. Let us look at what causes this condition, what signs to watch for, and how doctors help children manage it.

What Is Cherubism?

Simply put, cherubism is a rare genetic health condition. Instead of normal bone tissue, unusual tissue grows inside your child's jaw bones. This unusual tissue is not cancer, and it usually does not cause pain.

However, this growth makes both sides of the child's jaw widen. Their cheeks round out and look puffy. Some children might lose teeth early or have teeth that grow in crooked or crowded. Cherubism does not affect other bones in the body. It only affects the jaw bones.

These signs do not show up right when a baby is born. Symptoms usually start to appear between the ages of 2 and 7 years old. How severe the condition is varies from one child to another.

Some children have no signs at all or very mild signs that barely show. In severe cases, children might have trouble speaking, swallowing, or breathing properly.

The best news is that cherubism often improves on its own without treatment as the child reaches adulthood. Doctors watch the condition closely and only recommend treatments if severe symptoms appear or if the condition strongly affects daily life.

How Common Is Cherubism?

Cherubism is not a common condition. Researchers do not know the exact number of people who have it, but they make estimates based on published medical papers.

A study from 2019 found that medical literature had reported 513 people with cherubism up to that point. This shows just how rarely doctors see this condition in daily practice.

Symptoms of Cherubism.

Common signs of cherubism include:

• The lower jawbone becomes wider than expected.
• Fluid-filled, cyst-like growths develop in the jaw area.
• Cheeks look round and puffy.
• Tooth shape changes, teeth are missing, or teeth fail to emerge properly, known as impacted teeth.

Some children might also experience these additional signs:

• Eyes tilt upward, making the white part of the eye, or sclera, show below the colored part, or iris.
• Vision becomes weak or gradually decreases because extra tissue in the upper jaw affects the eyes and nearby nerves.
• Breathing through the mouth.
• Snoring during sleep.
• Breathing blockages during sleep, known as obstructive sleep apnea.
• Difficulty speaking or swallowing food.

Causes of Cherubism.

More than 90 percent of cherubism cases happen due to changes, or mutations, in a gene called SH3BP2.

This gene gives your body instructions on how to make the SH3BP2 protein. This protein helps with bone remodeling, which is the process of removing old bone tissue and building new bone tissue.

Gene mutations cause the body to make too much of this SH3BP2 protein. When this protein increases, inflammation happens in the jaw bone.

It also increases the production of cells called osteoclasts. Osteoclasts break down bone tissue that the body no longer needs.

However, when these cells become overactive, they break down jaw bone tissue even when it is not necessary. This abnormal bone breakdown and protein-driven inflammation create cyst-like growths in the jaw.

These growths gradually get larger and create the distinct signs of cherubism. However, some children with cherubism do not have SH3BP2 gene mutations.

In those cases, other gene changes might be the cause, though researchers have not yet found the exact details.

Is Cherubism Inherited?

Yes, many children inherit the gene mutation that causes cherubism from a parent. This condition follows an autosomal dominant inheritance pattern.

Simply put, if one parent carries this gene mutation, the child has a chance of receiving it. However, some children develop this condition without any family history.

Researchers call this a de novo mutation. This means a new genetic change happens in an person without any previous family history.

So while cherubism often runs in families, it does not happen that way every time. Even if no one in the family has this condition, doctors still consider cherubism a possible diagnosis based on clinical signs.

Other Conditions Connected to Cherubism.

Sometimes, cherubism occurs as part of another genetic syndrome in children. A few related conditions include:

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

In these cases, SH3BP2 gene mutations do not cause cherubism. Instead, other genetic changes linked to the specific syndrome are responsible.

How Doctors Diagnose Cherubism.

Doctors use these steps to diagnose cherubism:

• Performing a physical examination to check for signs like an unusually wide jaw, missing teeth, or dental problems.
• Ordering imaging tests, such as X-rays or computed tomography scans, also known as CT scans, to view the jaw bone condition clearly.
• Ordering genetic tests to look for specific gene mutations.

Doctors also need to rule out other conditions with similar signs, such as fibrous dysplasia or aneurysmal bone cysts. They also check whether cherubism is part of a larger genetic syndrome.

Treatments for Cherubism.

Many children with cherubism do not need special medical treatments. Pediatricians often follow a wait-and-see approach. This means they monitor the condition to see how it develops.

In most cases, these unusual tissues grow until the child reaches puberty, stay stable for a few years, and then gradually shrink. Cherubism signs usually fade away by early adulthood.

However, if your child has problems eating or breathing, the doctor might recommend surgery. Even so, doctors usually suggest surgery only after abnormal tissue growth stops.

If someone still has symptoms after that time and wants to change their facial appearance, they can consider surgery. Reconstructive surgery helps shape the face according to personal preference.

Supportive Treatments.

Cherubism affects various aspects of a child's life, especially when the condition is severe. Therefore, children might need treatments tailored to their specific needs, such as:

• Dental treatment, including tooth extractions or dental implants. Once cyst-like growths in the jaw shrink, children might also need orthodontic treatment with braces.
• Visual support if severe cherubism affects the child's vision. An eye specialist can check the vision and find the best solution.
• Help with speaking and swallowing from a speech-language pathologist, also known as an SLP, if the child has trouble talking or swallowing.
• Psychological support because cherubism can affect a child's self-esteem. Talking with your child about their feelings and how this condition affects their self-image is very important. Talking with a child psychologist also provides helpful support.

Outlook for People With Cherubism.

For most people, cherubism signs disappear by age 30. By that time, normal bone tissue replaces the unusual tissue.

In rare cases, cherubism signs persist into adulthood. If that happens, a doctor provides the necessary guidance and support.

Can Cherubism Be Prevented?

Doctors do not know any way to prevent this condition. If someone in your family has cherubism, getting genetic counseling before pregnancy is a helpful step.

How to Care for Your Child.

If your child has cherubism, keep these points in mind:

• Take your child to regular appointments with their pediatrician. The doctor tells you how often appointments are necessary.
• Have your child's eyes examined according to the schedule recommended by the doctor.
• Provide emotional support to your child. Encourage them and talk openly with them.

How the Name Cherubism Originated.

Dr. William A. Jones gave this condition its name in 1933. He chose the name cherubism because the condition's features include chubby cheeks and eyes that sometimes look upward.

He thought these features looked similar to a cherub, which is an angelic, cute character seen in paintings and various religious traditions. People have used that name ever since.

Take-Home Message.

Cherubism is a rare genetic condition that affects the jaw bones. It causes puffy cheeks and a wider jaw in children. Most of the time, this condition improves on its own as the child grows older.

However, consult a doctor if breathing or swallowing problems occur. Most importantly, continue giving your child love and support. Following medical advice while keeping your child's spirits strong matters most. Rest assured, you are not alone on this journey.

Sources & References:

• Mayo Clinic. Cherubism: Overview, Symptoms, and Causes. Available at: Mayo Clinic Patient Care Guide.
• Cleveland Clinic. Cherubism Disease and Jaw Conditions. Available at: Cleveland Clinic Health Library.
• National Institutes of Health (NIH) / Genetic and Rare Diseases Information Center (GARD). Cherubism Overview. Available at: NIH GARD Portal.
• National Health Service (NHS UK). Rare Genetic Conditions and Jaw Health. Available at: NHS Health A-Z.
• Centers for Disease Control and Prevention (CDC). Child Development and Genetic Health Guidelines. Available at: CDC Public Health Guidance.

Disclaimer: This medical article is for educational and informational purposes only and should not replace professional medical advice, diagnosis, or treatment. Always consult your pediatrician or qualified doctor with any questions regarding a medical condition.