Learn About Oculofaciocardiodental Syndrome
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.
Viaro Professional Arts Ltd Health Care
Cheng Her is a Family Medicine provider in La Crosse, Wisconsin. Dr. Her and is rated as an Advanced provider by MediFind in the treatment of Oculofaciocardiodental Syndrome. His top areas of expertise are Hypomelanosis of Ito, Familial Hypertriglyceridemia, Abruzzo-Erickson Syndrome, and Hennekam Syndrome.
Prisma Health University Medical Group
Christopher Thomas is a Hematologist Oncology specialist and a Hematologist in Clinton, South Carolina. Dr. Thomas and is rated as an Advanced provider by MediFind in the treatment of Oculofaciocardiodental Syndrome. His top areas of expertise are Childhood Iron Deficiency Anemia, Colorectal Cancer, Iron Deficiency Anemia, and Familial Colorectal Cancer. Dr. Thomas is currently accepting new patients.
University Medical Associates Of The Medical University Of South Carol
Daniel Judge is an Advanced Heart Failure and Transplant Cardiologist and a Cardiologist in Charleston, South Carolina. Dr. Judge and is rated as an Experienced provider by MediFind in the treatment of Oculofaciocardiodental Syndrome. His top areas of expertise are Cardiac Amyloidosis, Primary Localized Cutaneous Amyloidosis, Cardiomyopathy, Heart Transplant, and Cardiac Ablation. Dr. Judge is currently accepting new patients.
Published Date: November 18, 2024
Published By: National Institutes of Health