You may be a little worried that your little one's face has changed a bit, with their cheeks looking puffy. Or has the doctor told you about a change in their chin? We call this condition (Cherubism) . The name may sound a little strange, but let's keep it simple. This is a very rare condition, but it's important to be aware of it.
What is Cherubism?
Simply put, Cherubism is a rare genetic condition. It occurs when abnormal tissue grows in your child's jawbone instead of healthy bone tissue. This abnormal tissue is not cancerous and is usually painless. However, it can cause the child's jaw to be wide on both sides and their cheeks to look round and bloated . Some children may lose teeth or have teeth that grow irregularly. Cherubism does not affect other bones in the body, only the jawbone .
These symptoms do not start to appear immediately after birth. They usually appear between the ages of 2 and 7. The severity of the condition can vary from person to person. Some children may have no symptoms at all, or the symptoms may be very subtle and barely noticeable. However, in more severe cases, the child may have difficulty speaking, swallowing, or even breathing.
The best part is that cherubism often resolves on its own by adulthood without treatment. Doctors are always on the lookout for this condition and only recommend treatment if the symptoms are severe or if it is significantly impacting the child's quality of life.
How common is Cherubism?
Cherubism is not a very common condition. Researchers don't know exactly how many people have the condition, but they have made some estimates based on published medical articles. A 2019 study found that there are 513 cases of Cherubism reported in the medical literature. So you can see how rare it is.
What are the symptoms of Cherubism?
These are the common symptoms of Cherubism:
- The lower jaw bone (mandible) is wider than expected.
- Cyst-like growths in the child's jaw area.
- Round, puffy cheeks.
- Changes in the shape of teeth, missing teeth, or impacted teeth.
Some children may also have these symptoms:
- The eyes appear to be protruding and looking upwards. The white part of the eye (sclera) is visible under the black iris.
- The extra tissue in the upper jaw affects the eye and its associated nerves, causing vision loss or gradual loss of vision.
- Mouth breathing.
- Snoring.
- Obstructive sleep apnea.
- Difficulty speaking or swallowing.
What are the causes of Cherubism?
Most cases of Cherubism (more than 90%) are caused by mutations in the gene called `SH3BP2`.
This `SH3BP2` gene instructs our body on how to make the `SH3BP2` protein. This protein is involved in the process of removing old bone tissue and building new bone tissue (bone remodeling). Genetic mutations cause the body to produce too much of this `SH3BP2` protein.
When this protein is produced in excess, inflammation occurs in the jawbone. It also increases the production of cells called osteoclasts . Osteoclasts are a type of cell that plays an important role in breaking down bone tissue that the body no longer needs. However, when these cells become too numerous, they begin to break down bone tissue in the jawbone when it is not needed. This abnormal bone loss, combined with the inflammation caused by the increase in SH3BP2, leads to the formation of cyst-like growths in the jawbone. These growths gradually enlarge, which is what causes the characteristic symptoms of the condition (Cherubism).
However, some children with Cherubism do not have the SH3BP2 gene mutation. In such cases, other genetic mutations may be responsible. But researchers have not yet identified exactly what those mutations are.
Is (Cherubism) something that comes from generation to generation?
Yes, many children inherit the genetic mutation that causes Cherubism. The condition is passed down in an autosomal dominant pattern of inheritance. Simply put, if one parent has the genetic mutation, the child has a chance of getting it too.
However, some children can develop the condition even if no one in the family has had it before. Researchers call this a 'de novo mutation' . That is, a new genetic change that occurs in a person, without any family history.
So, while Cherubism is usually hereditary, it is not always the case. Even if no one in the family has the condition, doctors consider Cherubism a possible diagnosis.
Are there other conditions associated with Cherubism?
In some children, Cherubism can also occur as part of another genetic condition. Some of these related conditions include:
- `(Fragile X syndrome)`
- `(Jaffe-Campanacci syndrome)`
- `(Neurofibromatosis type 1)`
- `(Noonan syndrome)`
- `(Ramon syndrome)`
In such cases, the cause of Cherubism is not the SH3BP2 gene mutation. Instead, other genetic changes associated with the syndrome are responsible.
How do doctors diagnose Cherubism?
Doctors follow these steps to diagnose Cherubism:
- Physical examination: This involves checking the child for symptoms such as an unusually wide jaw, missing teeth, or dental problems (Cherubism).
- Ordering imaging tests: These include tests like X-rays or CT scans (computed tomography scans) . These can help to better assess the condition of the jawbone.
- Ordering genetic testing: These tests are done to check for genetic mutations.
Doctors also need to rule out other conditions that have similar symptoms, such as fibrous dysplasia or aneurysmal bone cysts , and to determine whether Cherubism is part of a genetic syndrome.
What are the treatments for Cherubism?
Most children with cherubism do not need any special treatment. Pediatricians often take a "wait and see" approach. That is, they watch the condition and see how it develops. In most cases, these abnormal tissues grow until the child reaches puberty, stay the same for a few years, and then gradually begin to shrink. The symptoms of cherubism usually disappear by early adulthood.
However, if your child has problems eating or breathing, the doctor may recommend surgery. However, doctors usually recommend surgery after the abnormal tissue growth has stopped. If a person still has symptoms and wants to change the appearance of their face, surgery may be considered. Reconstructive surgery helps to reshape a person's face to their liking.
Supportive treatments
Cherubism can affect many aspects of a child's life, especially if the condition is severe. Therefore, the child may need treatment tailored to their needs. Treatment options may include:
- Dental treatment: Children with cherubism may need dental treatment, such as tooth extractions or implants . Once the cyst-like growths in the jaw begin to shrink, the child may also need braces (orthodontics) .
- Visual support: In severe cases of cherubism, a child's vision may be affected. An ophthalmologist can examine the child's vision and find the best solution for their needs.
- Help with speaking and swallowing: If your child has difficulty speaking or swallowing, a speech-language pathologist (SLP) can help.
- Psychological support: Cherubism can affect a child's self-esteem. It is important to talk to your child about how they are feeling and how this condition is affecting their self-concept. Your child may benefit from talking to a child psychologist about their feelings.
What is the outlook for those with Cherubism?
Most people will have no symptoms of Cherubism by the age of 30. By then, the abnormal tissue has been replaced by normal bone tissue.
Very rarely, symptoms of cherubism can persist into adulthood. If this happens, a doctor will provide the necessary guidance and support.
Can Cherubism be prevented?
Doctors don't know of any way to prevent this condition. If someone in your family has Cherubism, it may be a good idea to get genetic counseling before getting pregnant.
How do I take care of my child?
If your child has Cherubism, be aware of these things:
- Continue to take your child to see a pediatrician. The doctor will tell you how often to come back.
- Have your child's eyes checked according to the schedule recommended by the doctor.
- Support the child emotionally. Encourage them, talk to them.
When should I call a doctor?
Call your pediatrician if your child has any of the following:
- Breathing difficulties, such as snoring or sleep apnea .
- Difficulty swallowing.
- Difficulty speaking.
- Vision problems.
How did the name (Cherubism) come about?
The condition was named in 1933 by Dr. William A. Jones . He chose the name "Cherubism" because the symptoms of the condition include a childlike, puffy face and sometimes upturned eyes. He believed that these features resembled those of a "cherub," a cute, angelic figure seen in art and various religious traditions. The name has been used ever since.
It can be a shock to learn that your child has a rare condition. In the case of Cherubism, the symptoms are not visible at birth, so you may be concerned when you see changes in your child's face or when a doctor mentions it. But remember, most cases of Cherubism resolve on their own by the time the child reaches adulthood. In severe cases, doctors can treat the effects of Cherubism. Giving your child lots of love and emotional support will help them get the care they need to make the most of their childhood and adolescence.
Take-Home Message
Cherubism is a rare genetic condition that affects the jawbone. This can cause the child's cheeks to bulge and the jaw to appear wide. This usually gets better as the child grows. However, if they have difficulty breathing or swallowing, see a doctor. The most important thing is to continue to give your child your love and support. The most important thing is to help your child stay strong while following medical advice. Don't worry, you are not alone in this journey.
` Cherubism, genetic diseases, jawbone, bulging cheeks, children's diseases, dental problems, SH3BP2 gene
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