Blepharocheilodontic SyndromeSymptoms, Doctors, Treatments, Advances & More
Learn About Blepharocheilodontic Syndrome
Blepharocheilodontic (BCD) syndrome is a disorder that is present at birth. It mainly affects the eyelids (blepharo-), upper lip (-cheilo-), and teeth (-dontic).
BCD syndrome is caused by mutations in the CDH1 or CTNND1 gene. These genes provide instructions for making proteins called epithelial cadherin (E-cadherin) and p120-catenin, respectively. The E-cadherin protein is found within the membrane that surrounds epithelial cells, which are the cells that line the surfaces and cavities of the body, including the inside of the eyelids and mouth. This protein is involved in the attachment of cells to one another (cell adhesion). The p120-catenin protein helps keep E-cadherin in its proper place in the cell membrane, preventing it from being taken into the cell and broken down prematurely. Interactions between the two proteins are also important for other cell processes that are involved in the development of the head and face (craniofacial development), including the eyelids and teeth.
BCD syndrome is a rare disorder; its prevalence is unknown. At least 50 affected individuals have been described in the medical literature.
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.
Jamal Ghoumid practices practicing medicine in Lille, France. Mr. Ghoumid is rated as an Elite expert by MediFind in the treatment of Blepharocheilodontic Syndrome. He is also highly rated in 17 other conditions, according to our data. His clinical expertise encompasses Blepharocheilodontic Syndrome, Hirschsprung Disease, Nail-Patella Syndrome, and Thrombocytopenia-Absent Radius Syndrome.
ETSU Physicians & Associates- Pediatrics
Alvaro Russi is a Pediatrics provider practicing medicine in Johnson City, Tennessee. Dr. Russi is rated as an Advanced provider by MediFind in the treatment of Blepharocheilodontic Syndrome. He is also highly rated in 125 other conditions, according to our data. His clinical expertise encompasses Increased Head Circumference, Ehlers-Danlos Syndrome (EDS), Chromosome 8p Deletion, and Chromosome 6q Duplication. Dr. Russi is board certified in American Board Of Pediatrics and American Board Of Medical Genetics.
Atrium Health Levine Children's Nephrology
Donald Weaver is a Pediatric Nephrologist practicing medicine in Charlotte, North Carolina. Dr. Weaver is rated as an Experienced provider by MediFind in the treatment of Blepharocheilodontic Syndrome. He is also highly rated in 2 other conditions, according to our data. His clinical expertise encompasses Posterior Urethral Valves, Togaviridae Disease, Feingold Syndrome, and Congenital Nephrotic Syndrome. Dr. Weaver is board certified in American Board Of Pediatrics and American Board Of Pediatrics, Pediatric Nephrology. Dr. Weaver is currently accepting new patients.
Published Date: August 01, 2017
Published By: National Institutes of Health