Learn About Cherubism

What is the definition of Cherubism?

Cherubism is a disorder characterized by abnormal bone tissue in the jaw. Beginning in early childhood, both the lower jaw (the mandible) and the upper jaw (the maxilla) become enlarged as bone is replaced with painless, cyst-like growths. These growths give the cheeks a swollen, rounded appearance and often interfere with normal tooth development. In some people the condition is so mild that it may not be noticeable, while other cases are severe enough to cause problems with vision, breathing, speech, and swallowing. Enlargement of the jaw usually continues throughout childhood and stabilizes during puberty. The abnormal growths are gradually replaced with normal bone in early adulthood. As a result, many affected adults have a normal facial appearance.

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What are the causes of Cherubism?

Mutations in the SH3BP2 gene have been identified in about 80 percent of people with cherubism. In most of the remaining cases, the genetic cause of the condition is unknown.

How prevalent is Cherubism?

The incidence of cherubism is unknown. Nearly 350 cases have been reported worldwide.

Is Cherubism an inherited disorder?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

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What are the latest Cherubism Clinical Trials?
Identification of Mutations That Lead to Cherubism in Families and Isolated Cases and Studies of Cellular and Molecular Mechanisms

Summary: The goal of this research study is to identify genes and regulatory elements on chromosomes that cause cherubism. Together with the investigators collaborators the investigators also study blood samples and tissue samples from patients to learn about the processes that lead to this disorder. The long-term goal of researchers involved in this study is to find mechanisms to slow down bone resorption...

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Who are the sources who wrote this article ?

Published Date: June 01, 2021Published By: National Institutes of Health

What are the Latest Advances for Cherubism?
Angioid streaks and optic disc drusen in cherubism: a case report.
Efficacy and safety of denosumab treatment in a prepubertal patient with cherubism.
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