Cherubism: Symptoms, Causes, and Treatment

Cherubism is a rare genetic condition that causes excessive bone growth in the lower part of the face, giving a cherubic appearance. While not harmful to overall health, it can impact facial structure and self-esteem. Cherubism is typically diagnosed in childhood and may stabilize or improve as the child grows. It affects about 1 in 200,000 people worldwide. Early detection and monitoring by a healthcare provider are crucial for managing any potential complications and providing support to individuals and families affected by this condition.

Causes of Cherubism

Cherubism, a rare genetic disorder, is influenced by various factors like:

• Genetic mutations affecting the SH3BP2 gene
• Inheritance pattern - autosomal dominant
• Increased activity of osteoclast cells
• Abnormal bone resorption in the jaws

Symptoms of Cherubism

Recognizing the symptoms of cherubism early on is crucial as it can lead to better outcomes and management of the condition. By being aware of the signs, healthcare providers can intervene promptly and provide appropriate care to improve the quality of life for individuals affected by cherubism.

Symptoms of Cherubism:

• Swelling of the cheeks or jaws
• Development of rounded, chubby cheeks
• Displacement or malformation of teeth
• Delayed or abnormal tooth eruption
• Pain or tenderness in the affected areas

Early detection based on these symptoms can lead to timely interventions such as monitoring, orthodontic treatment, or surgical options when necessary. Regular follow-ups can also help in managing any potential complications associated with cherubism.

Diagnosis of Cherubism

Cherubism is a rare genetic disorder characterized by abnormal bone development in the lower part of the face. Accurate diagnosis is crucial to differentiate it from other conditions with similar symptoms. The diagnostic process typically involves:

• Physical examination to assess facial features and swelling.
• Medical history review to identify any family history of cherubism.
• Imaging studies like X-rays, CT scans, or MRIs to visualize bone abnormalities.
• Genetic testing to confirm the presence of mutations in the SH3BP2 gene.

Treatment Options for Cherubism

Cherubism treatment approaches focus on individualized care to address the unique needs of each patient.

Surgical Intervention

• This treatment involves surgical removal of excess bone growth in the affected areas.
• It is used to reduce facial deformity, restore function, and improve aesthetics.
• The primary objective is to reduce the size of the jaw and cheeks.
• Phases may include pre-operative assessments, surgery, and post-operative care.

Orthodontic Treatment

• Orthodontic procedures help align teeth and jaws to improve function and aesthetics.
• It aims to correct dental misalignments and improve bite function.
• The primary objective is to enhance oral health and restore proper jaw function.
• Phases may involve braces, aligners, and retainers to reposition teeth and jaws.

Monitoring and Supportive Care

• This approach involves regular monitoring of the condition and providing support to manage symptoms.
• It helps track disease progression, manage pain, and address any concerns.
• The primary objective is to ensure optimal quality of life for the patient.
• Phases include regular check-ups, imaging studies, and symptom management.

Prevention and Management of Cherubism

When it comes to preventing or managing cherubism, lifestyle changes and proactive measures play a crucial role. Let's break it down into three key areas:

Lifestyle Modifications:

• Eating a balanced diet rich in fruits, vegetables, and lean proteins.
• Avoiding sugary and processed foods that can exacerbate inflammation.
• Maintaining good oral hygiene to prevent dental issues.

Regular Screenings:

• Regular visits to a dentist for early detection of dental problems.
• Consultations with an orthodontist for monitoring facial bone development.

Supportive Care:

• Seeking counseling or support groups for emotional well-being.
• Working closely with healthcare providers for comprehensive care.

By incorporating these lifestyle changes, keeping up with regular screenings, and seeking supportive care, individuals can take proactive steps in managing cherubism effectively.

If you’ve been having any symptoms or worries about cherubism, please reach out to our doctors. They will listen to your concerns, answer your questions and guide you through the next steps.