Cherubism Explained: The Rare Jaw Condition That Makes Children's Cheeks Look Round and Puffy
Updated: 3 days ago
Medically reviewed by Dr. Baraa Alnahhal, MD · Last reviewed: October 2026
Quick answer
Cherubism is a rare genetic disorder in which cyst-like, noncancerous growths replace healthy jaw bone on both sides, widening the jaw and puffing the cheeks. Symptoms usually start between ages 2 and 7, and SH3BP2 gene mutations cause over 90% of cases. [1] Most children need no treatment, as growths shrink at puberty; surgery is reserved for severe problems. [1] [3]
What the research says
According to PubMed:
Most cases are inherited and linked to SH3BP2. A systematic review of 260 publications reporting 513 cherubism cases found a family history in 310 of 458 cases (67.7%) and SH3BP2 mutations in 101 of 108 cases tested (93.5%). “Wait and see” was the most common therapeutic approach. (Chrcanovic et al., International Journal of Oral and Maxillofacial Surgery, 2021) [2].
The jaw lesions usually grow until puberty, then regress. In a clinical practice review, swelling of the jaws usually appeared between ages 2 and 7, lesions grew until puberty, then regressed, filled with bone and remodeled until about age 30, when they were frequently no longer detectable. Because cherubism is usually self-limiting, observation is the usual first step; early surgery is justified for aggressive lesions that cause severe problems such as airway obstruction. (Papadaki et al., Orphanet Journal of Rare Diseases, 2012) [3].
What is cherubism?
Cherubism is a rare genetic disorder — a condition caused by a change in a child's DNA — that affects the shape of the face. In cherubism, abnormal tissue slowly replaces healthy bone in the jaw. This tissue isn't cancerous and isn't painful, but it makes the jaw grow wider on both sides and the cheeks look round and puffy. [1] That fuller face is how the condition got its cherub-like name.
Cherubism affects only the jaw bones, not the other bones in the body. Children may also have teeth that are missing, misshapen, or impacted (stuck under the gums and unable to come in normally). [1]
Signs don't show up right after birth. They usually develop between the ages of 2 and 7. [1] [3] Severity varies widely: some children have no symptoms or symptoms so mild they're barely noticeable, while in more severe cases the condition can make it hard to speak, swallow, or breathe. [1] Cherubism usually goes away on its own by adulthood. [1] Providers keep an eye on the condition and recommend treatment only if it causes severe symptoms or greatly interferes with a child's quality of life.
Key stat: cherubism is so rare that the exact number of cases is unknown. A 2019 literature review identified 513 cases reported in the medical literature.
What are the signs and symptoms of cherubism?
The telltale sign is the shape of the face: the lower jaw grows wider than expected on both sides, and the cheeks become round and puffy. Not every child has every sign.
Sign or symptom | What it looks or feels like |
|---|---|
Wider lower jaw | The mandible (lower jaw) grows wider on both sides [1] |
Cyst-like growths | Noncancerous lumps of abnormal tissue in the jaw area [1] |
Round, puffy cheeks | Full cheeks that give a cherub-like appearance [1] |
Dental changes | Teeth that are misshapen, missing, or impacted (unerupted) [1] |
Upward-gazing eyes | Eyes may bulge outward and seem to look upward, with the white of the eye visible below the iris [1] |
Vision changes | Vision may be poor or slowly worsen as extra tissue in the upper jaw interferes with the eyeball and its nerves [1] |
Breathing issues | Mouth breathing, snoring, or obstructive sleep apnea [1] |
Function problems | Trouble speaking or swallowing, in more severe cases [1] |
What causes cherubism?
Mutations in the SH3BP2 gene cause most cases — over 90%. [1] A gene is a unit of DNA that carries instructions for making a protein. The SH3BP2 gene tells the body how to make the SH3BP2 protein, which plays a role in bone remodeling, the normal process of replacing old bone with new bone.
When the gene is mutated, the body makes too much SH3BP2 protein. The excess protein causes inflammation in the jaw bone and increases the production of osteoclasts — cells whose job is to break down bone tissue the body no longer needs. In excess, osteoclasts start breaking down jaw bone when they shouldn't. That bone loss, combined with inflammation, causes cyst-like growths to develop and gradually get bigger, producing the typical features of cherubism. [1]
Some children with cherubism don't have SH3BP2 mutations. In those cases other genetic changes may be responsible, but researchers don't yet know exactly which ones. [1]
Is cherubism inherited?
Usually, yes. Most children with cherubism inherit a genetic mutation that causes it. It follows an autosomal dominant pattern, which means a child needs only one copy of the changed gene, inherited from one parent, to develop the condition. [1] [3]
However, some children have no family history at all. They have what researchers call a de novo mutation — a genetic change that appears for the first time in that child. [1] So although cherubism is usually inherited, that's not always the case, and providers consider it as a possible diagnosis even when no one else in the family has it.
Inheritance pattern | What it means for your family |
|---|---|
Autosomal dominant (usual) | One changed gene copy from one parent is enough; each child of an affected parent has a 50% chance of inheriting it |
De novo mutation (less common) | The change appears for the first time in the child; no family history [1] |
Can cherubism be part of another genetic disorder?
Yes, in some children cherubism occurs as part of another genetic disorder, including Fragile X syndrome, Jaffe-Campanacci syndrome, neurofibromatosis type 1 (NF1), Noonan syndrome, and Ramon syndrome. [1] In these cases SH3BP2 mutations aren't the cause. Other genetic changes related to the specific syndrome are responsible, so providers also look for signs of a larger syndrome. [1] For a broader look at how DNA changes affect health, see our guide to genetic disorders.
How is cherubism diagnosed?
Providers diagnose cherubism by combining an exam, imaging, and genetic testing. They also have to rule out conditions with similar signs, such as fibrous dysplasia and aneurysmal bone cysts. [1]
Diagnostic step | What it involves |
|---|---|
Physical exam | The provider looks for clinical signs such as an unusually wide jaw, missing teeth, or other dental issues [1] |
Imaging tests | X-rays or CT (computed tomography) scans show the cyst-like growths in the jaw bone [1] |
Genetic testing | A DNA test looks for the mutations that cause cherubism [1] |
Ruling out look-alikes | Providers exclude conditions such as fibrous dysplasia and aneurysmal bone cysts [1] |
Checking for a syndrome | Providers look for signs that cherubism is part of another genetic disorder [1] |
What is the treatment for cherubism?
Most children don't need treatment. Pediatricians often take a “wait and see” approach: they keep an eye on the condition and watch how it progresses. [1] [2] Most often the abnormal tissue grows until puberty, stays stable for a few years, and then starts to shrink. [1] [3] The signs usually go away during early adulthood. [1] A clinical practice review describes observation and follow-up as the initial management in most cases (Papadaki et al., 2012) [3].
Surgery comes into play only in specific situations. A provider may recommend it if a child can't eat or breathe easily. [1] [3] Providers usually don't recommend surgery until the abnormal tissue stops growing. [1] [3] Later, a person who still has symptoms and wants to change how their face looks may consider reconstructive surgery to reshape the face. [1]
What supportive treatments might a child need?
Cherubism can affect many parts of a child's life, especially in more severe cases, so children may need care tailored to their needs:
Supportive treatment | How it helps |
|---|---|
Dental treatment | Tooth extraction or implants; orthodontics once the growths start shrinking [1] |
Visual support | An eye care specialist assesses vision and finds the best solution [1] |
Speech and swallowing help | A speech-language pathologist (SLP) helps a child who struggles with speaking or swallowing [1] |
Psychological support | A child psychologist can help a child work through how the condition affects self-esteem and sense of self [1] |
A child's face is a big part of how they see themselves, so emotional support matters. Talk openly with your child about how they feel and how the condition affects their sense of self.
What is the outlook for people with cherubism?
The outlook is generally good. Most people outgrow noticeable cherubism symptoms by the time they're 30, when normal bone tissue replaces the abnormal tissue. [1] [3] Rarely, signs linger further into adulthood; if that happens, a healthcare provider will offer guidance and support. [1]
A note of reassurance for parents: cherubism is noncancerous and painless, and for most families it resolves on its own without any treatment at all.
Can cherubism be prevented?
Healthcare providers don't know of any way to prevent cherubism. [1] If it runs in your biological family, you may wish to seek genetic counseling before pregnancy to understand the inheritance risks. [1]
How can you take care of a child with cherubism?
If your child has cherubism, take them to see a pediatrician regularly (your pediatrician will tell you how often), keep up with eye exams on the schedule their provider recommends, and give them plenty of emotional support.
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, or vision problems. Seek urgent medical care for severe trouble breathing, swallowing, or eating.
What's the bottom line?
Cherubism is a rare, noncancerous genetic disorder of the jaw that makes a child's lower jaw wider and the cheeks round and puffy, usually appearing between ages 2 and 7. It's most often caused by an inherited SH3BP2 gene mutation and mostly follows a wait-and-see course: the growths shrink after puberty and usually resolve by early adulthood. Surgery is reserved for severe eating or breathing problems, and supportive care — dental, visual, speech, and emotional — helps children thrive along the way. With regular pediatric follow-up, most families find that cherubism resolves on its own and their child grows into a healthy adulthood.
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Conclusion
Learning your child has a rare condition can come as a shock, especially when the signs don't appear until the early childhood years. Rest assured that most cases of cherubism resolve on their own by adulthood, and in severe cases providers can offer treatment to manage its effects. Plenty of love and emotional support can help your child enjoy childhood and adolescence to the fullest.
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Related reading on Rinnit
Frequently Asked Questions
What is cherubism?
Cherubism is a rare genetic disorder in which abnormal, noncancerous tissue replaces healthy bone in the jaw, widening both sides of the lower jaw and making the cheeks look round and puffy.
Why is it called cherubism?
The condition makes children's cheeks look full and, sometimes, makes their eyes appear to gaze upward, features that resemble a cherub in art. Dr. William A. Jones named it in 1933.
Is cherubism cancer?
No. The abnormal tissue in cherubism is noncancerous and painless.
Does cherubism hurt?
No. The growths and bone changes in cherubism aren't painful.
When do cherubism symptoms appear?
Symptoms usually develop between ages 2 and 7. They don't appear right after birth.
What does cherubism look like?
A child typically has a lower jaw that is wider than expected on both sides, round puffy cheeks, and possibly misshapen, missing, or unerupted teeth.
Can cherubism affect a child's eyes?
Yes. In some children the eyes bulge slightly and seem to gaze upward, with the white of the eye (sclera) visible below the iris. Extra tissue in the upper jaw can also interfere with the eyeball and its nerves, causing poor or slowly worsening vision.
Can cherubism affect breathing or eating?
In more severe cases, yes. Children may mouth-breathe, snore, have obstructive sleep apnea, or have trouble speaking and swallowing.
What causes cherubism?
Mutations in the SH3BP2 gene cause over 90% of cases. The mutation makes the body produce too much SH3BP2 protein, which causes jaw inflammation and extra osteoclast cells that break down jaw bone, forming cyst-like growths.
What are osteoclasts?
Osteoclasts are cells that break down bone tissue the body no longer needs. In cherubism, too many of them break down healthy jaw bone.
Is cherubism inherited?
Usually, yes. It follows an autosomal dominant pattern, so one changed gene copy from one parent is enough. Some children have a new (de novo) mutation with no family history.
What does autosomal dominant mean?
Autosomal dominant means only one copy of the changed gene is needed to develop the condition. Each child of an affected parent has a 50% chance of inheriting it.
Can a child have cherubism with no family history?
Yes. Some children have a de novo mutation, a genetic change that appears for the first time in them, with no one else in the family affected.
How common is cherubism?
Cherubism is rare. A 2019 literature review identified 513 cases reported in the medical literature.
How is cherubism diagnosed?
Through a physical exam, imaging tests such as X-rays or CT scans, and genetic testing. Providers also rule out look-alike conditions such as fibrous dysplasia and aneurysmal bone cysts.
Is cherubism part of other genetic syndromes?
Sometimes. It can occur as part of Fragile X syndrome, Jaffe-Campanacci syndrome, neurofibromatosis type 1, Noonan syndrome, or Ramon syndrome. In those cases, other genetic changes are responsible.
What is the treatment for cherubism?
Most children need no treatment. Providers use a wait-and-see approach while the growths shrink after puberty. Surgery is considered for problems with eating or breathing, usually after the tissue stops growing.
Will cherubism go away on its own?
In most cases, yes. The abnormal tissue grows until puberty, stays stable for a few years, then shrinks, and the signs usually go away during early adulthood.
Does cherubism affect other bones?
No. Cherubism affects only the jaw bones, not the other bones in the body.
Can cherubism be prevented?
There's no known way to prevent it. If it runs in your biological family, you may wish to seek genetic counseling before pregnancy.
Will my child need dental work?
Possibly. Children may need tooth extractions or implants, and orthodontics once the growths start to shrink.
What is the long-term outlook?
Most people outgrow noticeable symptoms by age 30, when normal bone replaces the abnormal tissue. Rarely, signs linger into adulthood, and a provider will offer guidance and support.
This article is for general informational purposes only and does not constitute medical advice, diagnosis, or treatment. Always seek the guidance of your physician or other qualified health provider with any questions about a medical condition. Never disregard professional medical advice or delay seeking care because of something you have read here. If your child has severe trouble breathing, swallowing, or eating, seek urgent medical care.
References
Cleveland Clinic. Cherubism. Cleveland Clinic. Last updated September 22, 2023. https://my.clevelandclinic.org/health/diseases/cherubism-disease
Chrcanovic BR, Guimarães LM, Gomes CC, Gomez RS. Cherubism: a systematic literature review of clinical and molecular aspects. Int J Oral Maxillofac Surg. 2021;50(1):43-53. PMID 32620450. https://doi.org/10.1016/j.ijom.2020.05.021
Papadaki ME, Lietman SA, Levine MA, Olsen BR, Kaban LB, Reichenberger EJ. Cherubism: best clinical practice. Orphanet J Rare Dis. 2012;7(Suppl 1):S6. PMID 22640403. https://doi.org/10.1186/1750-1172-7-S1-S6
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