Popliteal pterygium syndrome

Common Name(s)

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 and/or a cleft palate. Affected individuals may have depressions (pits) near the center of the lower lip and small mounds of tissue on the lower lip. In some cases, people with popliteal pterygium syndrome have missing teeth. Other features may include webs of skin on the backs of the legs across the knee joint, webbing or fusion of the fingers or toes (syndactyly), characteristic triangular folds of skin over the nails of the large toes, and tissue connecting the upper and lower eyelids or the upper and lower jaw. Affected individuals may also have abnormal genitals. This condition is inherited in an autosomal dominant fashion and is caused by mutations in the IRF6 gene.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Popliteal pterygium syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Popliteal pterygium syndrome" returned 12 free, full-text research articles on human participants. First 3 results:

Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases.
 

Author(s): Elizabeth J Leslie, Jennifer Standley, John Compton, Sherri Bale, Brian C Schutte, Jeffrey C Murray

Journal: Genet. Med.. 2013 May;15(5):338-44.

 

Mutations in the transcription factor IRF6 cause allelic autosomal dominant clefting syndromes, Van der Woude syndrome, and popliteal pterygium syndrome. We compared the distribution of IRF6 coding and splice-site mutations from 549 families with Van der Woude syndrome or popliteal ...

Last Updated: 7 May 2013

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Mutations in RIPK4 cause the autosomal-recessive form of popliteal pterygium syndrome.
 

Author(s): Ersan Kalay, Orhan Sezgin, Vasant Chellappa, Mehmet Mutlu, Heba Morsy, Hulya Kayserili, Elmar Kreiger, Aysegul Cansu, Bayram Toraman, Ebtesam Mohammed Abdalla, Yakup Aslan, Shiv Pillai, Nurten A Akarsu

Journal: Am. J. Hum. Genet.. 2012 Jan;90(1):76-85.

 

The autosomal-recessive form of popliteal pterygium syndrome, also known as Bartsocas-Papas syndrome, is a rare, but frequently lethal disorder characterized by marked popliteal pterygium associated with multiple congenital malformations. Using Affymetrix 250K SNP array genotyping ...

Last Updated: 16 Jan 2012

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Popliteal pterygium syndrome: orofacial and general features.
 

Author(s): S K Bahetwar, R K Pandey, T S Bahetwar

Journal: J Indian Soc Pedod Prev Dent. ;29(4):333-5.

 

This report describes the case of a 13-year-old Indian boy with popliteal pterygium syndrome. The popliteal pterygium syndrome is an extremely rare hereditary disorder thought to occur with an incidence of approximately 1 in 300000 live births. It is a congenital malformation syndrome ...

Last Updated: 21 Oct 2011

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Reviews from the PubMed Database

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The terms "Popliteal pterygium syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.