Cherubism Disease

Overview

Cherubism is a rare condition that makes the jaw bones grow extra tissue, so the lower part of the face looks fuller and rounder than usual. It usually starts in early childhood, most often between ages 2 and 5. The swelling is caused by areas of fibrous tissue (tough, scar-like tissue) replacing normal bone, usually in the lower jaw and sometimes the upper jaw. Despite the swelling, the areas are almost always painless. The name comes from the rounded cheeks that can make a child's face look like a cherub in old paintings. Cherubism is not cancer, and in most children the swelling slowly gets smaller and flatter on its own after the teen years.

No. Cherubism is very rare. It is sometimes called a rare disease because only a small number of families around the world are affected.

Cherubism usually appears in young children, most often between ages 2 and 5. Boys and girls can both be affected, though it is often noticed earlier and more obviously in boys. It runs in families, so a child with cherubism often has a parent or relative with the same gene change, although sometimes the gene change is new in that child.

Symptoms

Common symptoms

• Painless, firm swelling on both sides of the lower jaw, making the face look rounded or full
• Sometimes swelling of the upper jaw as well
• A change in the shape of the face over months to years
• Baby teeth that fall out early, or adult teeth that are missing, late, or in the wrong place
• Teeth that look unusual or are spaced differently
• A rounded, upward-looking position of the eyes in some children when the upper jaw is involved

Symptoms in children

• The swelling is usually first noticed by a parent or during a routine dental visit
• Cheeks look fuller and the jaw feels firm, not tender
• Teeth may be slow to come through, or adult teeth may not appear at all
• Speech or chewing can occasionally be affected if tooth position changes a lot
• Most children feel well in themselves and have no pain

Symptoms in older adults

• Cherubism is a childhood condition and usually settles down by the late teens or early twenties
• In a small number of adults, some jaw swelling or changes in tooth position may remain
• Adults who had cherubism as a child may still need dental checks and, rarely, further surgery

Causes

Main causes

• Cherubism is caused by a change (variant) in a gene called SH3BP2. This gene helps control how certain bone-removing cells behave.
• Because of the gene change, areas of bone in the jaw are replaced by fibrous tissue, which makes the jaw look swollen.
• It is usually inherited in a family: a parent with the gene change can pass it to a child. Sometimes the gene change happens for the first time in a child with no family history.

Risk factors

• Having a parent or close relative with cherubism
• Being a young child — symptoms usually appear between ages 2 and 5
• Being male — cherubism is often noticed earlier and more clearly in boys

When to see a doctor

See a doctor urgently if:

• Swelling in the jaw that is getting bigger quickly or is painful
• Fever with a swollen, red, or warm jaw
• Changes in vision, eye position, or eye movement
• Trouble breathing, swallowing, or speaking
• A dental infection that is not improving

Book a routine appointment if:

• You notice your child's cheeks or jaw look unusually full or rounded
• Your child's teeth are late to come through, fall out early, or look out of place
• A family member has cherubism and you want advice about your child
• You have questions about how cherubism might affect school, eating, or dental care

Diagnosis

A doctor or dentist will usually start by asking about your child's symptoms, family history, and dental history, and by gently feeling the jaw. Imaging scans then show the typical pattern of fibrous areas in the jaw bone. Sometimes a small sample of the tissue is taken to rule out other conditions. A genetic test can confirm a change in the SH3BP2 gene if it is needed.

Tests that may be done

• A careful examination of the face, jaw, mouth, and teeth
• Dental X-rays to check tooth development and position
• A CT scan or sometimes an MRI scan to see the jaw bones in detail
• A biopsy (a small tissue sample) in some cases, to be sure of the diagnosis
• Genetic testing (a blood or saliva sample) to look for the SH3BP2 gene change
• An eye check if the upper jaw or eye area is involved

What to expect at your appointment

You may be seen by more than one specialist, such as a children's doctor, a jaw and face specialist, a dentist, and possibly a genetic counsellor. Diagnosis can take a few weeks because scans and test results need to be reviewed. Your care team will explain each step and give you time to ask questions.

Treatment

There is no cure for cherubism, and often no treatment is needed at first. Because the swelling usually improves on its own after puberty, the usual approach is careful watching with regular check-ups. Treatment, when needed, is planned around your child's growth, comfort, and wellbeing, and is decided together by your family and the care team.

Self-care at home

• Keep up regular dental visits so tooth development and position can be checked
• Practise good mouth care — gentle brushing twice a day and help with flossing for young children
• Keep a simple note or photos of any changes in jaw size so you can show your care team
• Tell your child's school or nursery if your child needs any support with eating or speaking
• Encourage normal play and activities — cherubism does not stop a child from being active
• Ask your care team before any dental or jaw procedure so everyone knows about the condition

Medical treatments

Most children are monitored rather than treated. Monitoring means regular visits and scans to track the jaw changes. If treatment is needed, specialists may use jaw and face surgery to reshape bone or remove fibrous tissue when it causes problems with appearance, chewing, or tooth position. Surgery is usually delayed until the growth of the face has slowed, often in the late teens, unless there is a pressing reason to act sooner. Orthodontic work (braces and other tooth alignment treatment) is sometimes used to help with tooth position. Any plan is made case by case with your specialist team.

When is surgery considered?

Surgery may be considered if the swelling is large, keeps growing, affects how your child chews, speaks, or breathes, causes eye problems, or has a big impact on how your child feels about their appearance. Because the condition often improves with time, specialists usually prefer to wait until the face has finished most of its growth. Your care team will explain the benefits, risks, and timing for your child.

Living with this condition

Most children with cherubism go to school, play sports, and do everything other children do. Day-to-day life mostly involves keeping dental appointments and check-ups, and watching for any changes. Some families find it helpful to keep a simple folder of appointments, scans, and letters so nothing gets lost.

Lifestyle tips

• Keep a regular routine of dental check-ups and specialist appointments
• Support good sleep, activity, and a balanced diet for healthy growth
• Encourage your child to talk about how they feel, and to ask questions at appointments
• Protect the jaw in contact sports by following your care team's advice on mouth guards
• Let teachers, coaches, and carers know about the condition in a simple, matter-of-fact way

Diet and exercise

No special diet is needed. A balanced diet with plenty of vegetables, fruit, protein, and calcium-rich foods supports healthy bones and teeth. If chewing is uncomfortable or teeth are missing, softer foods and smaller portions can help at times, and a dentist or dietitian can give advice. Children should stay active — there is no reason to avoid exercise. If your child plays contact sports, ask your care team whether a mouth guard or extra care is sensible.

Mental health and emotional wellbeing

Because cherubism changes the shape of the face, some children and teenagers feel self-conscious, worried, or upset about their appearance, and may be teased. These feelings are real and worth taking seriously. Talking openly, focusing on the child's strengths, and letting them know that the swelling often improves can help a lot. If low mood, anxiety, or worry about appearance is affecting daily life, speak to your doctor — support such as counselling can make a genuine difference. If you or your child ever have thoughts of self-harm, contact your local emergency number or a crisis support line straight away.

Prevention

Cherubism cannot be prevented, because it is caused by a gene change present from before birth. If cherubism runs in your family, a genetic counsellor can explain the chance of passing it on and discuss options with you.

Screening programmes

There is no general screening programme for cherubism. If a parent has the gene change, a doctor may suggest checking their children's jaw and teeth early, and genetic testing can be discussed with a genetic counsellor.

Complications

If left untreated

• Tooth problems, such as missing, misplaced, or unusually shaped adult teeth
• Ongoing changes in the shape of the face
• In some children, pressure on the eye area causing changes in eye position or, rarely, vision problems
• Rarely, breathing or swallowing difficulties if swelling becomes very large
• Emotional effects such as low confidence or worry about appearance

Long-term outlook

The outlook is generally good. Cherubism is not cancer, and in most people the swelling becomes less noticeable after puberty, sometimes flattening completely. Some people are left with changes in the shape of the jaw or with dental differences that may need orthodontic care or, occasionally, surgery. With regular check-ups and the right support, most children with cherubism grow up healthy and get on with everyday life.

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