Muscle Health, Physiotherapy and OrthopedicsUnderstanding Cherubism: Causes, Symptoms, Diagnosis, Treatment, and Management

Understanding Cherubism: Causes, Symptoms, Diagnosis, Treatment, and Management

Cherubism is a rare genetic disorder that appears in childhood and causes symmetrical enlargements in the jawbones. This condition is characterized by abnormal growths, particularly in the lower and upper jawbones. The name “cherubism” comes from the “cherubic” appearance due to the fullness and roundness of the face. The disease typically becomes noticeable between the ages of 2 and 5 and develops until adolescence. Cherubism is a condition where symptoms gradually diminish over time and stabilize in adulthood.

What Causes Cherubism?

The primary cause of cherubism is mutations in the SH3BP2 gene. This gene plays a role in cell signaling and the reshaping of bone tissue. Mutations in the SH3BP2 gene lead to the overactivity of bone cells, resulting in abnormal growths in the jawbones. Cherubism follows an autosomal dominant inheritance pattern, meaning a mutated gene from one parent is sufficient for the disorder to manifest. Individuals with a family history of cherubism have a high likelihood of developing the disease.

What Are the Symptoms of Cherubism?

The symptoms of cherubism include:

  • Symmetrical growths in the jawbones
  • Swelling in the lower and upper jaws
  • A full and round facial appearance
  • Downward displacement of the eyes
  • Displacement or absence of teeth
  • Difficulty in chewing and speaking

How Is Cherubism Diagnosed?

The diagnosis of cherubism involves clinical evaluation, radiological imaging, and genetic tests. The diagnostic process includes the following steps:

Clinical Examination: Symptoms such as swelling in the jawbones and a full facial appearance in children are assessed. The condition of the teeth and jaw movements are also examined.

Radiological Imaging: Panoramic X-rays, CT scans, and MRIs are used to examine the detailed structure of the jawbones.

Genetic Tests: Genetic tests can be done to detect mutations in the SH3BP2 gene. These tests involve analyzing a blood sample in a laboratory to confirm the diagnosis.

Family History: The presence of cherubism in the family is questioned because the genetic nature of the disease makes family history an important clue in diagnosis.

How Is Cherubism Treated?

There is no specific treatment for cherubism, but various treatment methods can be applied to manage symptoms and prevent complications. Treatment options may include:

Surgical Intervention: Surgical procedures may be necessary to correct abnormal growths in the jawbones. Surgery aims to reshape the jawbones and improve functionality.

Orthodontic Treatment: Orthodontic treatment can be applied in cases of tooth displacement or absence. This treatment ensures proper alignment of the teeth and improves chewing function.

Eye Treatments: Ophthalmological interventions may be required in cases where the eyes are displaced downward. Eye treatments are done to preserve visual function and improve aesthetic appearance.

Pain Management: Painkillers and anti-inflammatory drugs can be used for patients experiencing pain in the jaw and facial area.

How Should Cherubism Be Managed?

Managing cherubism requires a multidisciplinary approach and coordination among various medical specialists. Management strategies should include:

Regular Medical Follow-up: It is important for patients to regularly visit doctors and have their health status closely monitored. This is necessary for early detection and management of potential complications.

Family Education: Raising awareness among families about cherubism and its management is critical for providing necessary care at home. Family education helps improve the patient’s quality of life.

Psychosocial Support: Providing psychological and social support to both patients and their families is beneficial for enhancing quality of life and reducing stress.

Early Intervention Programs: Intervention programs applied during early childhood are important for supporting physical and developmental skills.

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