Learn About Popliteal Pterygium Syndrome

What is the definition of 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.

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What are the causes of Popliteal Pterygium Syndrome?

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.

How prevalent is Popliteal Pterygium Syndrome?

Popliteal pterygium syndrome is a rare condition, occurring in approximately 1 in 300,000 individuals.

Is Popliteal Pterygium Syndrome an inherited disorder?

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.

Who are the top Popliteal Pterygium Syndrome Local Doctors?
Distinguished
Highly rated in
4
conditions

School Of Public Health

Addis Ababa University 
Addis Ababa, AA, ET 

Mekonen Eshete practices in Addis Ababa, Ethiopia. Eshete is rated as a Distinguished expert by MediFind in the treatment of Popliteal Pterygium Syndrome. They are also highly rated in 4 other conditions, according to our data. Their top areas of expertise are Van Der Woude Syndrome, Popliteal Pterygium Syndrome, Cleft Lip and Palate, and Pterygium.

Distinguished
Highly rated in
1
conditions

University Of Bristol

Sunderland, ENG, GB 

Rebecca Richardson practices in Sunderland, United Kingdom. Richardson is rated as a Distinguished expert by MediFind in the treatment of Popliteal Pterygium Syndrome. She is also highly rated in 1 other condition, according to our data. Her top areas of expertise are Popliteal Pterygium Syndrome, Pterygium, Syndactyly, and Acromicric Dysplasia.

 
 
 
 
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Distinguished
Highly rated in
2
conditions

University Of Manchester

Faculty Of Biology 
Manchester, ENG, GB 

Nigel Hammond practices in Manchester, United Kingdom. Hammond is rated as a Distinguished expert by MediFind in the treatment of Popliteal Pterygium Syndrome. They are also highly rated in 2 other conditions, according to our data. Their top areas of expertise are Popliteal Pterygium Syndrome, Bartsocas-Papas Syndrome, Cleft Tongue, and Cleft Lip and Palate.

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Who are the sources who wrote this article ?

Published Date: July 07, 2022Published By: National Institutes of Health

What are the Latest Advances for Popliteal Pterygium Syndrome?

There is no recent research available for this condition. Please check back because thousands of new papers are published every week and we strive to find and display the most recent relevant research as soon as it is available.