HOSA Dental Terminology Practice

What genetic disorder is characterized by enlargement of cheek tissue and other facial structures?

1. Fibrodisplasia

2. Cleft lip

3. Cherubism

4. Down syndrome

The correct answer is: Cherubism

Cherubism is a genetic disorder that primarily affects the jaw and facial structures, leading to the enlargement of cheek tissue and other facial features. This condition results from a mutation in the SH3BP2 gene, which disrupts normal bone remodeling. As a consequence, fibrous tissue replaces bone in the mandible and maxilla, causing a characteristic swelling of the cheeks and distortions in facial appearance. The specific change in the structure and growth of the bones in the jaw area distinguishes cherubism from other conditions. It typically manifests in childhood and may have varying degrees of severity, sometimes involving complete resolution after puberty. In contrast, fibrodisplasia refers to a different condition that involves abnormal bone growth and is not specifically associated with the facial structure enlargement seen in cherubism. Cleft lip pertains to a congenital split in the upper lip, while Down syndrome is a chromosomal condition that affects physical and cognitive development but does not specifically cause the characteristic facial enlargement associated with cherubism.