Cherubism Overview
Learn About 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.
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.
The incidence of cherubism is unknown. Nearly 350 cases have been reported worldwide.
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.
Hattiesburg Clinic PA
James Stephens is a Family Medicine provider in Hattiesburg, Mississippi. Dr. Stephens and is rated as an Experienced provider by MediFind in the treatment of Cherubism. His top areas of expertise are Cellulitis, Urinary Tract Infection in Children, Peptic Ulcer, and Necrosis. Dr. Stephens is currently accepting new patients.
Central Surgical Associates
Brian Hamilton is a General Surgeon in Jackson, Mississippi. Dr. Hamilton and is rated as an Experienced provider by MediFind in the treatment of Cherubism. His top areas of expertise are Gallbladder Disease, Cellulitis, Gallstones, Colostomy, and Gastrostomy. Dr. Hamilton is currently accepting new patients.
Wallace Mclaurin is an Oral and Maxillofacial Surgeon and a General Surgeon in Brandon, Mississippi. Dr. Mclaurin and is rated as an Experienced provider by MediFind in the treatment of Cherubism. His top areas of expertise are Uvulitis, Ludwig Angina, Mouth Ulcers, and Mouth Sores. Dr. Mclaurin is currently accepting new patients.
Summary: The prevalence of sleep-disordered breathing is high, with an apnea-hypopnea index of over 15 per hour found in 49.7% of men and 23.4% of women in the general population (1). The gold standard treatment for sleep-disordered breathing is continuous positive airway pressure (CPAP) therapy (2). However, nearly 30% of patients are considered non-adherent to CPAP treatment (3). Moreover, the number of ...
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...
Published Date: June 01, 2021
Published By: National Institutes of Health