Cherubism is a genetic disorder characterized by abnormal bone tissue in the mandible and maxilla (the jaw bones) which means the body replaces the bones with excessive fibrous tissue, giving affected individuals a characteristic swollen, rounded face.
Cherubism also causes premature loss of the primary teeth and uneruption of the permanent teeth. In some cases, the condition becomes severe enough to cause problems with vision, breathing, speech, and swallowing.
Many affected adults are lucky enough to have a normal facial appearance when abnormal tissue are replaced by normal bone. However, some require surgery to correct the condition and live a normal life.
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene from one parent is sufficient to cause the disorder. Some cases however, result from new mutations in the gene and occur in people with no history of the disorder in their family.
There are about 250 people living with the condition worldwide.
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