Learn About Van Der Woude Syndrome
Van der Woude syndrome is a condition that affects the development of the face. Many people with this disorder are born with either a cleft lip or a cleft palate (an opening in the upper lip or roof of the mouth), or both. Affected individuals usually have depressions (pits) near the center of the lower lip, which may appear moist due to the presence of salivary and mucous glands in the pits. Small mounds of tissue on the lower lip may also occur. In some cases, people with van der Woude syndrome have missing teeth.
Variations (also known as mutations) in the IRF6 gene cause most cases of van der Woude syndrome. The IRF6 gene provides instructions for making a protein that plays an important role in early development. This protein is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. The IRF6 protein is active in cells that give rise to tissues in the head and face. It is also involved in the development of other parts of the body, including the skin and genitals.
Van der Woude syndrome is believed to occur in 1 in 35,000 to 1 in 100,000 people, based on data from Europe, Asia, and Africa. Van der Woude syndrome is the most common cause of cleft lip and palate resulting from genetic variations.
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. In most cases, an affected person has one parent with the condition. Occasionally, an individual who has a copy of the altered gene does not show any signs or symptoms of the disorder.
Youssef Kousa is a Pediatric Neurologist and a Pediatrics provider in Washington, Washington, D.c.. Dr. Kousa and is rated as an Elite provider by MediFind in the treatment of Van Der Woude Syndrome. His top areas of expertise are Popliteal Pterygium Syndrome, Van Der Woude Syndrome, Anencephaly, Hemimegalencephaly, and Liver Embolization.
Proliance Surgeons
Peter F. Maurice, MD, is a highly specialized otolaryngologist, and fellowship-trained in plastic surgery. He is double board-certified by the American Board of Facial Plastic and Reconstructive Surgery and the American Board of Otolaryngology.Dr. Maurice received his medical degree from Georgetown University, in Washington, DC, where he was elected to membership in the Alpha Omega Alpha Honor Medical Society. He completed his residency in otolaryngology–head and neck surgery at Georgetown University Hospital.Dr. Maurice then was selected for a fellowship in facial plastic and reconstructive surgery. This full-year training program gave him a unique opportunity to study with one of the AAFPRS's master surgeons in Albuquerque, New Mexico.At South Seattle Otolaryngology, patients benefit from a team of on-site audiologists and allergy specialists, in addition to a team of otolaryngologists with over 50 years of combined experience. Dr. Maurice is rated as an Experienced provider by MediFind in the treatment of Van Der Woude Syndrome. His top areas of expertise are Chronic Rhinosinusitis with Nasal Polyps (CRSwNP), Sinusitis, Low Nasal Bridge, Nasal Septal Hematoma, and Thyroidectomy.
Regents Of The University Of California
David Hom is a Plastic Surgeon and an Otolaryngologist in San Diego, California. Dr. Hom has been practicing medicine for over 43 years and is rated as an Experienced provider by MediFind in the treatment of Van Der Woude Syndrome. His top areas of expertise are Low Nasal Bridge, Nasal Flaring, Nasal Septal Hematoma, and Perichondritis.
Published Date: July 07, 2022
Published By: National Institutes of Health