Cherubism: Causes, Symptoms, and Treatment
Medically reviewed by Achuta Uppu, MD, Internal Medicine. Last reviewed: October 23, 2026.
What kind of doctor treats Cherubism?
A craniofacial surgeon (a doctor who treats the bones of the face and jaw) usually treats cherubism. Care is often done by a craniofacial team (a special team for face and jaw conditions). Your child's pediatrician (children's doctor) can also watch growth and teeth. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What is cherubism?
Cherubism is a disorder with abnormal bone tissue in the jaw. It starts in early childhood. Both the lower jaw (the mandible) and the upper jaw (the maxilla) get bigger. This happens as bone is replaced with painless, cyst-like growths.
These growths give the cheeks a swollen, rounded look. They often get in the way of normal tooth development. In some people the condition is so mild that it may not be noticeable. In others it is severe enough to cause problems with vision, breathing, speech, and swallowing.
Jaw growth usually continues through childhood and levels off during puberty. The growths are slowly replaced with normal bone in early adulthood. As a result, many affected adults have a normal facial look.
Symptoms
Most people with cherubism have few, if any, signs or symptoms in other parts of the body. Signs in the face and jaw include:
- Cheeks that look swollen and rounded.
- A larger lower jaw and upper jaw.
- Teeth that are displaced or do not come in, or that look like they float in cyst-like spaces.
- A bad bite, early loss of baby teeth, and widely spaced adult teeth.
The jaw growths are usually painless. But a severe jaw shape may make chewing and swallowing hard. An ache in the mouth and discomfort when eating food are frequently reported.
Causes and who gets it
Changes in the SH3BP2 gene have been found in about 80 percent of people with cherubism. In most of the other cases, the genetic cause is unknown. The SH3BP2 gene gives instructions for a protein that is important for the function of cells that replace old bone tissue with new bone. This process is called bone remodeling.
Cherubism is most commonly inherited in an autosomal dominant pattern. This means one copy of the changed gene is enough to cause it. Each child of a person with autosomal dominant cherubism has a 50% risk of getting the changed gene. The number of people who have it is unknown.
How doctors diagnose it
Doctors look at the face and jaw, take a family history, and use imaging tests (pictures of the bones). Genetic testing can find a change in the SH3BP2 gene. There are no firm diagnostic rules yet, so doctors put these findings together.
Treatment
Care is usually managed by a craniofacial clinic with experience in children. The jaw growths often shrink on their own after puberty. When surgery is needed, it may include curettage (scraping out the growths) with or without bone grafting (adding bone). Jaw growths can come back after surgery.
Orthodontic treatment (braces and dental care) is commonly required, because the jaw shape leads to lasting tooth problems. Speech and language therapy may help if speech is affected. Doctors also treat blocked breathing during sleep and upper-airway obstruction (a blocked airway) when they occur. An eye doctor checks the eyes each year or as needed.
When to see a doctor
Contact the doctor if your child has problems with vision, breathing, speech, or swallowing. Contact the doctor if your child has an ache in the mouth or discomfort when eating food. If your child has trouble breathing, call 911.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. Your doctor can check your child's growth and teeth and refer you to a craniofacial team. Follow-up visits can track feeding, speech, and dental changes over time.
Common questions
Will cherubism go away?
Often, yes. Jaw growth levels off during puberty, and the growths are slowly replaced with normal bone in early adulthood. Many affected adults have a normal facial look. But the face may not fully improve for every person.
Is cherubism inherited?
Yes, it can be. It is most commonly inherited in an autosomal dominant pattern, so one copy of the changed gene is enough to cause it. Each child of a person with autosomal dominant cherubism has a 50% risk of getting the changed gene.
What happens to the teeth?
In most affected persons, teeth are displaced or do not come in, or they may look like they float in cyst-like spaces. A bad bite has also been reported. Orthodontic treatment is commonly required.
What causes cherubism?
Most often, a change in the SH3BP2 gene. Changes in the SH3BP2 gene have been identified in about 80 percent of people with cherubism. Most people diagnosed are the only one in their family with it, and they are presumed to have a new gene change.
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Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
