Cherubism: Symptoms, Causes, Treatment

What are the symptoms of cherubism?

Cherubism is a rare genetic disorder that primarily affects the jaws and causes them to become enlarged and rounded. The condition is typically diagnosed in early childhood and may become more pronounced as the child grows.

Symptoms of cherubism can include:

1. Enlarged, rounded cheeks: This is often described as giving the child a “cherubic” appearance.
2. Enlarged jaw: The lower jaw may be particularly affected, leading to a protruding or square-shaped jaw.
3. Dental problems: The enlarged jaws can cause misalignment of the teeth and other dental issues.
4. Delayed tooth eruption: Teeth may take longer to come in or may be positioned abnormally.
5. Vision or breathing problems: In severe cases, the enlarged jaws can lead to vision problems or difficulty breathing.

Cherubism is typically not painful and does not affect cognitive development. The condition usually stabilizes and may even improve on its own as the child reaches puberty, although in some cases, surgical intervention may be necessary to manage the jaw deformities.

What are the causes of cherubism?

Cherubism is caused by mutations in the SH3BP2 gene, which is involved in regulating bone development and remodeling. These mutations lead to an overgrowth of bone in the jaws, particularly the lower jaw, resulting in the characteristic enlarged and rounded appearance seen in cherubism.

Cherubism is inherited in an autosomal dominant pattern, which means that a child only needs to inherit one copy of the mutated gene from one parent to develop the condition. In some cases, the condition may occur sporadically, meaning that there is no family history of cherubism and the mutation arises spontaneously.

It’s important to note that while cherubism is a genetic condition, not everyone with a mutation in the SH3BP2 gene will develop the characteristic features of the condition. The severity of cherubism can vary widely among individuals, even within the same family.

What is the treatment for cherubism?

Treatment for cherubism depends on the severity of the condition and the symptoms it causes. In mild cases where there are no significant symptoms or functional problems, treatment may not be necessary, and the condition may improve or stabilize over time.

In more severe cases, especially those that affect facial appearance or cause functional problems, treatment options may include:

1. Monitoring: Regular monitoring by a healthcare professional to track the progression of the condition and assess the need for treatment.
2. Dental care: Management of dental issues caused by cherubism, such as misalignment of the teeth or delayed tooth eruption, may involve orthodontic treatment or dental surgery.
3. Surgical intervention: In cases where the jaw deformities are severe and causing significant functional or cosmetic problems, surgical procedures may be considered to reshape or reduce the size of the jaw bones.
4. Corticosteroids: In some cases, corticosteroid medications may be prescribed to help reduce the size of the jaw lesions and alleviate symptoms. However, the long-term effectiveness of this treatment is not well-established.

It’s important for individuals with cherubism to receive regular follow-up care from a healthcare professional experienced in managing the condition. They can provide guidance on the most appropriate treatment options based on the individual’s specific circumstances and needs.

Does cherubism go away on its own?

Cherubism typically does not go away on its own, but its progression can stabilize and even improve in some cases, especially as affected individuals reach puberty. The condition is often most severe in early childhood and may become less pronounced as the child grows older.

In some individuals, cherubism may stabilize without causing significant functional or cosmetic issues, and treatment may not be necessary. However, in cases where the condition causes significant jaw deformities, dental problems, or other complications, treatment options such as surgery or other interventions may be considered to manage the symptoms.

Regular monitoring by a healthcare professional experienced in managing cherubism is important to track the progression of the condition and assess the need for treatment. Treatment decisions should be based on the individual’s specific circumstances and the severity of their symptoms.