Cherubism – What is it, Causes, Symptoms and Treatments!

Cherubism – What it is, Causes, Symptoms and Treatments of this condition. Furthermore, Cherubism is a rare genetic disease that affects the bones of the lower jaw and sometimes the upper jaw. Bones are replaced by cyst-like tissue growths that are not as dense. This makes the cheeks look round and puffy, but it’s usually not painful.

About 200 cases of cherubism have been reported worldwide. The condition is usually discovered during early childhood, although symptoms may improve after puberty.

Symptoms: The most common symptoms of Cherubism are:

• Round and swollen cheeks;
• wide jaw ;
• Missing, misplaced or missing teeth ;
• Eyes that turn slightly upward (in advanced stages).

People with Cherubism show no signs of birth. The symptoms begin to appear in early childhood, usually between the ages of 2 and 5 years. Tissue growths in the jaw grow rapidly until the child is approximately 7 or 8 years old. At this point, the tissue usually stops growing or grows more slowly for several years.

When someone with cherubism reaches puberty, the effects of the condition usually begin to reverse. For many people, the cheeks and jaw begin to return to their typical size and shape by early adulthood. When this happens, normal bone replaces tissue growths again.

Many people show little or no outward signs of Cherubism by their 30s or 40s. In some rare cases, however, symptoms last into adulthood and do not reverse.

Causes: Cherubism is a genetic disorder. This means that there is a mutation, or permanent change, to the DNA pattern of at least one gene. Mutations can affect a single gene or multiple genes.

About 80 percent of people with cherubism have a mutation for the same gene, called SH3BP2. Studies suggest that this gene is involved in creating cells that break down bone tissue . This could be why, when this particular gene is mutated, it affects bone growth in the jaw.

In the remaining 20 percent of people with cherubism , the cause is also a genetic disorder. However, it is not known which gene is affected.

Risk Factors: As cherubism is a genetic condition, the biggest risk factor is having a parent who has cherubism . If they are carriers, they have the gene mutation but do not have symptoms. Research suggests that among people who have a mutated gene that causes cherubism , 100 percent of men and 50 to 70 percent of women show the physical signs of the condition.

This means that women can be carriers of the mutation, but don’t know they have it. Men cannot be considered carriers, as they always show the physical signs of Cherubism .

You can have a genetic test to find out if you are a carrier of the SH3BP2 gene mutation. Test results will not indicate whether you are a carrier of Cherubism caused by a different gene mutation.

If you have Cherubism or are an Operator, you have a 50% chance of passing the condition on to your children. If you or your partner has the SH3BP2 gene mutation, you may be able to have prenatal testing. Talk to your doctor about your options as soon as you know you’re pregnant .

That said, sometimes cherubism occurs spontaneously, meaning there is a genetic mutation but no family history of the condition.

Diagnoses: Doctors usually diagnose cherubism through a combination of assessments, including:

• Physical exam;
• Review of family history;
• Computed tomography;
• X-ray.

If you are diagnosed with cherubism , your doctor may take a blood sample or do a skin biopsy to test if the mutation is in the SH3BP2 gene. To help determine the type of treatment needed after a diagnosis of cherubism , your doctor may also recommend:

• Dental evaluation by your dentist or orthodontist;
• Ophthalmic eye examination;
• Assessment of family history, if not part of the initial diagnosis.

Treatments: For some people with cherubism , surgery to remove the tissue growth is an option. It can help restore your jaw and cheeks to their former size and shape.

If you have misplaced teeth , your teeth can be pulled or adjusted through orthodontics. Any missing or pulled teeth can be replaced with implants, too.

Children with cherubism should see their doctor and dentist regularly to monitor symptoms and progress of the condition. It is not recommended that children have surgery to remove facial tissue growth until they have gone through puberty.

Talk to your doctor about any concerns you may have. They will work with you to develop the best treatment plan for you based on your symptoms and other health factors.

Complications: Cherubism affects everyone differently. If you have a mild form, it may be barely noticeable to others. The more severe forms are more obvious and can cause other complications. While Cherubism itself is painless, its complications can cause discomfort.

Sverus Cherubism Can Cause Problems With:

• Chewing
• in time to swallow
• Speak
• Breathe
• vision

Cherubism is usually not linked to another condition, but it has sometimes appeared with another genetic disorder. In rare cases, Cherubism has been reported alongside:

• Noonan syndrome, which causes heart defects, short stature, and distinctive facial features such as wide eyes and low-fitting ears that are swiveled back;
• Fragile X syndrome, which causes learning disabilities and cognitive impairment and generally affects men more severely than women;
• Ramon syndrome, which causes short stature, learning difficulties and overgrown gums.