Oculofaciocardiodental (OFCD) syndrome is a condition that affects the development of the eyes (oculo-), facial features (facio-), heart (cardio-), and teeth (dental).

Variants (also called mutations) in the BCOR gene cause OFCD syndrome. The BCOR gene provides instructions for making a protein called the BCL6 corepressor. This protein helps regulate the activity of other genes. Specifically, the BCL6 corepressor appears to play an important role in regulating genes during early development, particularly those that are involved in the formation of the eye and other organs and tissues.

OFCD syndrome is very rare; the incidence is estimated to be less than 1 in 1 million people.

OFCD syndrome is inherited in an X-linked dominant pattern. The BCOR gene is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a variant in one of the two copies of the gene in each cell is sufficient to cause the disorder. As a result, some cells produce a normal amount of BCL6 corepressor protein and other cells produce none, leading to about half the normal amount of protein.

Published Date: November 18, 2024
Published By: National Institutes of Health