What is Cherubism? Causes, Symptoms and Treatment

Written by Medicover Team and Medically Reviewed by Dr Neha Mukhi , Pediatricians

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1. Causes 2. Find a Doctor 3. Diagnosis 4. Treatment 5. FAQs

Cherubism is an autosomal dominant disorder, meaning it can be passed from an affected parent to their child with a 50% chance of inheritance. The condition is primarily identified by the replacement of bone with fibrous tissue in the lower part of the face, particularly the mandible and maxilla. This results in swollen cheeks and an upward gaze due to the displacement of the orbital floor, contributing to the 'cherubic' appearance.

What are the Causes of Cherubism?

Genetic Factors

The primary cause of cherubism is mutations in the SH3BP2 gene, which plays a crucial role in regulating bone remodeling and immune responses. Mutations in this gene lead to overactive osteoclasts, the cells responsible for bone resorption, resulting in the characteristic bone lesions of cherubism.

Inheritance Patterns

Cherubism follows an autosomal dominant inheritance pattern, meaning that a single copy of the altered gene in each cell is sufficient to cause the disorder. However, the severity and specific manifestations can vary widely, even among members of the same family.

Hereditary Transmission

Families with a history of cherubism often pass the condition from one generation to the next. If one parent carries the mutated gene, there is a 50% chance of passing it to their child.

Developmental Bone Abnormalities

The SH3BP2 mutation leads to abnormal fibrous tissue growth, replacing normal bone in the jaw. This overgrowth is typically evident in childhood and progresses during puberty.

Hormonal and Environmental Factors

While genetic mutation is the primary cause, hormonal changes during childhood and adolescence may influence the severity of the condition.

Cherubism is not an exterior or lifestyle-derived disease. Genetic tests and imaging will be beneficial to early detection of the disease so that it can be treated timely. The identification of the genetic basis is important for the counselling of affected families and the development of potential treatments for Cherubism.

What are the Symptoms of Cherubism?

Cherubism symptoms often appear between the ages of 2 and 7. The condition may stabilize or improve after puberty in many cases, with swelling and jaw issues gradually diminishing.

Facial Features

The most apparent symptoms of cherubism are the facial abnormalities, which typically become noticeable between the ages of 2 and 7. These include:

Bilateral swelling of the cheeks
Upward-turned eyes due to the displacement of the lower eye sockets
Distorted jawline and dental issues

Radiological Features

Radiographic imaging is crucial for diagnosing cherubism. X-rays and CT scans reveal multilocular radiolucent areas (cyst-like spaces) within the jawbones. These lesions are often symmetrical and can expand, causing further deformation of the facial structure.

Swelling of the Jawbones: The most noticeable symptom is painless swelling of the lower jaw (mandible) and sometimes the upper jaw (maxilla), which can cause a rounded or puffy appearance.
Facial Asymmetry: As the jawbones grow abnormally, facial asymmetry may develop, leading to uneven features.
Tooth Abnormalities: Teeth may erupt late, be displaced, or become misaligned due to jaw swelling. Some individuals may also experience missing teeth or spacing issues.
Difficulty Chewing or Speaking: As the jaw changes, it can affect the alignment and function of the mouth, leading to challenges in chewing or speaking clearly.
Eye and Cheek Changes: In severe cases, swelling in the upper jaw can push the eyes upward, causing a noticeable widening between them (hypertelorism) and altering the cheek structure.

When to See a Doctor for Cherubism?

If your child develops signs or symptoms suggestive of cherubism, early evaluation by a Pediatrician is important. Prompt diagnosis can help monitor jaw development, manage symptoms, and determine whether specialist care or treatment is required.

If your child develops painless swelling of the lower jaw, upper jaw, or both.
If facial swelling becomes more noticeable or progresses over time.
If your child has difficulty chewing, speaking, swallowing, or breathing.
If there are delayed, missing, or misaligned permanent teeth.
If your child experiences pain, discomfort, or recurrent jaw infections.
If there is a family history of cherubism or other inherited jaw disorders.
If facial changes begin to affect your child's vision, hearing, or daily activities.
If symptoms worsen or new concerns arise, consult a Pediatrician for further evaluation and appropriate referral.

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How is Cherubism Diagnosed?

Clinical Examination

Diagnosis often begins with a thorough clinical examination, where the characteristic facial features and family history are assessed.

Cherubism Radiology

Radiographic imaging plays a pivotal role in confirming the diagnosis. Cherubism radiology typically shows:

Expansive, multilocular radiolucent areas in the mandible and maxilla
Thinning of the cortical bone
Displacement of teeth

Genetic Testing

Genetic testing can confirm mutations in the SH3BP2 gene, providing a definitive diagnosis. This is particularly useful in differentiating cherubism from other similar conditions such as fibrous dysplasia or giant cell granuloma.

What are the Treatment Options for Cherubism?

Monitoring and Conservative Management

In mild cases, where the aesthetic and functional impact is minimal, a conservative approach involving regular monitoring may be sufficient. Many children experience spontaneous regression of the lesions after puberty, reducing the need for aggressive treatments.

Medical Treatments

While no specific medications are approved for cherubism, certain drugs aimed at reducing bone resorption and inflammation have shown promise in managing symptoms. These include:

Bisphosphonates: These drugs inhibit osteoclast activity, potentially slowing the progression of bone lesions.
Corticosteroids: Used to reduce inflammation and swelling, though their long-term efficacy in cherubism remains uncertain.

Surgical Interventions

Surgery may be considered in severe cases where the deformity causes significant functional or psychological distress. Cherubism surgery options include:

Curettage and Contouring: Removal of fibrous tissue and reshaping of the jawbones to improve facial aesthetics.
Orthognathic Surgery: Corrective jaw surgery to realign the jaws and teeth, addressing both functional and cosmetic concerns.
Dental Interventions: Orthodontic treatments to manage dental misalignments and ensure proper occlusion.

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What are the Common Conditions Associated with Cherubism?

Cherubism condition is typically linked to specific genetic mutations and often presents during early childhood. Although cherubism primarily affects facial bones, it can sometimes be associated with other medical conditions.

Dental Issues
Bone Disorders
Endocrine Disorders
Genetic Syndromes
Vision and Hearing Issues

What are the Psychological and Social Implications of Cherubism?

Cherubism can have profound psychological and social impacts, particularly during formative years. Children with cherubism may experience bullying or social isolation due to their appearance. Therefore, it is crucial to provide comprehensive support, including:

Counseling and Psychological Support: To help affected individuals cope with self-esteem issues and social challenges.
Support Groups: Connecting families and individuals affected by cherubism to share experiences and advice.

What is the Life Expectancy of People with Cherubism?

People with cherubism usually have a normal lifespan. The condition chiefly affects facial structure, not general health or lifespan.
In rare instances, complications such as trouble breathing or swallowing can occur when the jawbone is significantly involved and medical management is warranted.
If early detection and intervention is combined with regular medical follow-ups, any possible complications can be managed well.

What is a Cherubic Appearance?

This gives the face a plump and angelic appearance sometimes referred to as "cherubic appearance," due to the rounded cheeks and swollen lower jaw that are classically associated with cherubism.
In childhood, overgrowth and cystic changes in the jawbone can lead to a characteristic facial appearance.
In many cases, the chubby (cherubic) appearance fades with age, while some children may have resolution to the point of having entirely normal facial features by adulthood.

Frequently Asked Questions

1. What causes cherubism?

Genetic factors are responsible for cherubism, and specifically mutations in the SH3BP2 gene. It causes abnormalities in bone formation, particularly in the jaw and facial regions, resulting in the swelling and appearance characteristic of the condition.

2. What are the symptoms of cherubism?

Signs and symptoms of cherubism includes swelling of the jaw or cheeks, delayed or misaligned teeth, and in severe cases difficulty chewing or speaking. The condition typically becomes apparent in early childhood but may stabilize following puberty.

3. How is cherubism treated?

Cherubism treatment varies based on its severity. Mild cases may not need treatment; moderate to severe cases may need dental work and orthodontic treatment, and in rare cases surgery to improve the function and appearance of the jaw.

4. How is cherubism diagnosed?

Diagnosis of cherubism is made based on clinical examination, family history, and imaging tests like X-rays or CT scans. An accurate diagnosis can be made through genetic testing, which can confirm mutations in the SH3BP2 gene.

5. What are the features of cherubism?

Symptoms of this condition include symmetrical swelling of the jaw and cheeks (which creates a round or swollen face), dental abnormalities, and cystic bone lesions in the jaw. It can also impact nearby structures, possibly leading to vision or hearing problems.