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?

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.

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, AA, ET 

Mekonen Eshete is 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.

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Highly rated in
10
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University Of Manchester

Newcastle Upon Tyne, ENG, GB 

Jill Dixon is in Newcastle Upon Tyne, United Kingdom. Dixon is rated as a Distinguished expert by MediFind in the treatment of Popliteal Pterygium Syndrome. She is also highly rated in 10 other conditions, according to our data. Her top areas of expertise are Popliteal Pterygium Syndrome, AEC Syndrome, Treacher Collins Syndrome, and Acrofrontofacionasal Dysostosis Syndrome.

 
 
 
 
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Distinguished
Highly rated in
1
conditions

University Of Bristol

Sunderland, ENG, GB 

Rebecca Richardson is 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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Who are the sources who wrote this article ?

Published Date:updated Last, April

Published 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.