If you have an abnormal growth of the bone tissue in your jaw, then maybe you are suffering from cherubism. This condition begins in infancy and continues until your facial bones are fully developed. As you develop, your lower and upper jaws enlarge abnormally due to cyst-like growths that replace the bone.

Although these growths aren’t painful, they’ll make your cheeks appear swollen and rounded. They’ll also interfere with the normal development of your teeth. Continue reading to learn more about cherubism.

Cherubism Overview

Cherubism is a rare disorder that causes continuous, painless, bilateral growth of the bone tissue in your jaw. This condition can be either mild or severe. In mild cases, you might not notice the swelling in your jaw, while in extreme cases, the swelling becomes visible and interferes with your vision, speech, breathing, and swallowing. In most cases, the growth of the bone tissue stabilizes when the child reaches puberty. As you get into early adulthood, the abnormal cyst-like growths will be replaced with the normal jawbone, restoring your normal facial appearance.

Symptoms of Cherubism

Most cherubism patients don’t show signs of the disease in any other part of the body. But in rare situations, this condition can be part of another genetic disorder like Ramon syndrome, which is also associated with short stature, gum overgrowth, and cognitive disability. In other instances, cherubism may be related to another rare condition called Noonan syndrome, characterized by abnormal facial features, short physique, and heart complications.

Cherubism is also associated with fragile X syndrome, which primarily affects men. This rare condition results in learning disabilities and poor cognitive function. Another disorder associated with cherubism is neurofibromatosis type 1, which is characterized by several skin tumors. Here are other common symptoms of cherubism:

  • Abnormal morphology of your lower jaw (mandible)
  • Abnormally wide lower jaw
  • A fluid-filled cavity in your jawbone (bone cyst)
  • More prominence or plumpness of the soft tissues between your zygomata and lower jaw
  • Abnormal morphology of your dental structure, e.g., misshaped teeth and other teeth abnormalities
  • Absence of teeth from the normal series (oligodontia)
  • Abnormal voice
  • Difficulty chewing or sucking in infants
  • Obstructive sleep apnea
  • Optic atrophy
  • Progressive loss of vision

Causes and Treatment of Cherubism

Medical experts believe that cherubism is mainly caused by a random mutation of a gene of SH3BP2. However, it’s still not clear why the disorder affects more men than women. At least 75 percent of the cases are linked to the mutation of the SH3BP2 gene. The best treatment for cherubism includes jaw contouring, intralesional steroid injection, and administration of systemic calcitonin.