Cleidocranial dysplasia is a condition that primarily affects development of the bones and teeth. Signs and symptoms of cleidocranial dysplasia can vary widely in severity, even within the same family.

Cleidocranial dysplasia is usually caused by mutations in the RUNX2 gene. This gene provides instructions for making a protein that is involved in the development and maintenance of teeth, bones, and cartilage. Cartilage is a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone (a process called ossification), except for the cartilage that continues to cover and protect the ends of bones and is present in the nose, airways, and external ears.

Cleidocranial dysplasia occurs in approximately 1 per million individuals worldwide. It is likely underdiagnosed because many affected individuals have mild signs and symptoms.

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. Some affected individuals inherit the mutation from one affected parent. Often the parent is mildly affected, and in some cases had not previously been recognized as having the disorder. Other cases result from new mutations in the gene. These cases occur in people with no history of the disorder in their family.

Published Date: August 01, 2017
Published By: National Institutes of Health