Typically manifesting during childhood, cherubism is a genetic disorder characterized by abnormal bone development in the lower part of the face. If left untreated, it can result in significant facial deformity. We will examine the causes, symptoms, diagnosis, treatment, and prevention measures associated with cherubism in this blog post.
Causes
This condition is caused primarily by mutations in the SH3BP2 gene, which disrupt normal bone development and lead to excessive fibrous tissue and bone growth in the lower part of the face. In order for a child to develop cherubism, they only need to inherit one copy of the mutated gene from one of their parents.
Symptoms
Children with cherubism usually exhibit the following symptoms between the ages of two and five:
-
Cheek and jaw swelling
-
Lower jaw enlargement
-
Teeth that are displaced or malformed
-
Teeth crowding
-
Depending on the severity of the condition, difficulty speaking or eating
Diagnosis
Cherubism is typically diagnosed by a combination of clinical examination, medical history review, and imaging tests such as X-rays, CT scans, or MRIs. Genetic testing may also be conducted to determine if the SH3BP2 gene is mutated.
Treatment
Symptoms of cherubism are managed and the appearance and function of the face are improved. Options for treatment include:
-
In mild cases, where the condition causes minimal discomfort or cosmetic concerns, observation without intervention may be appropriate.
-
Surgical intervention may be required in more severe cases to reduce jaw swelling, reshape the jawbone, and correct facial deformities. Surgery may involve bone removal or reshaping of the jawbone to restore facial balance.
-
An orthodontic device, such as braces, can correct dental abnormalities associated with cherubism, such as misaligned or crowded teeth.
Prevention
As cherubism is a genetic disorder, it cannot be prevented entirely. Individuals with a family history of cherubism may benefit from genetic counseling to understand their risk of passing the condition onto their children. Cherubism symptoms can be managed and complications can be prevented with early diagnosis and intervention.
In conclusion, cherubism is a rare genetic disorder that affects bone development in the lower part of the face. Although it cannot be prevented, early diagnosis and appropriate treatment can reduce symptoms and improve quality of life for affected individuals. For proper evaluation and management, it is important to consult with a healthcare professional if you suspect that you or your child has cherubism.
