Popliteal Pterygium SyndromeSymptoms, Doctors, Treatments, Advances & More
Learn About Popliteal Pterygium Syndrome
Popliteal pterygium syndrome is a condition that affects the development of the face, skin, and genitals. Most people with this disorder are born with a cleft lip, a cleft palate (an opening in the roof of the mouth), or both. Affected individuals may 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 popliteal pterygium syndrome have missing teeth.
Variants (also known as mutations) in the IRF6 gene cause popliteal pterygium 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.
Popliteal pterygium syndrome is a rare condition, occurring in approximately 1 in 300,000 individuals.
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.
Main Hospital-Neuroscience Clinic
Youssef Kousa is a Pediatric Neurologist practicing medicine in Washington, Washington, D.c.. Dr. Kousa is rated as an Elite provider by MediFind in the treatment of Popliteal Pterygium Syndrome. He is also highly rated in 2 other conditions, according to our data. His clinical expertise encompasses Popliteal Pterygium Syndrome, Van Der Woude Syndrome, Arthrogryposis Multiplex Congenita, Anencephaly, and Liver Embolization. Dr. Kousa is board certified in American Board Of Psychiatry And Neurology, 2020.
Proliance Surgeons
Anthony Yi is an Orthopedics provider practicing medicine in Seattle, Washington. Dr. Yi is rated as an Advanced provider by MediFind in the treatment of Popliteal Pterygium Syndrome. He is also highly rated in 9 other conditions, according to our data. His clinical expertise encompasses Popliteal Pterygium Syndrome, Multiple Pterygium Syndrome X Linked, Multiple Pterygium Syndrome, and Poland Syndrome. Dr. Yi is board certified in American Board Of Orthopaedic Surgery. Dr. Yi is currently accepting new patients.
Proliance Surgeons
Mark Reed is a Podiatric Surgeon and an Orthopedics provider practicing medicine in Seattle, Washington. Dr. Reed is rated as an Experienced provider by MediFind in the treatment of Popliteal Pterygium Syndrome. He is also highly rated in 9 other conditions, according to our data. His clinical expertise encompasses Synovial Osteochondromatosis, Morton Neuroma, Tendinitis, and Freiberg's Disease. Dr. Reed is board certified in American Board Of Orthopaedic Surgery. Dr. Reed is currently accepting new patients.
Published Date: July 07, 2022
Published By: National Institutes of Health