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 14 free, full-text research articles on human participants. First 3 results:

Clinical and molecular findings in a Moroccan patient with popliteal pterygium syndrome: a case report.
 

Author(s): Ilham Ratbi, Nawfal Fejjal, Marie Legendre, Nathalie Collot, Serge Amselem, Abdelaziz Sefiani

Journal:

 

Popliteal pterygium syndrome is a congenital malformation that includes orofacial, musculoskeletal and genitourinary anomalies. It is a rare autosomal dominant disorder due to a mutation of the IRF6 gene on 1q32.2.

Last Updated: 8 Jan 2015

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Syngnathia and obstructive apnea in a case of popliteal pterygium syndrome.
 

Author(s): Jennifer E Posey, Vedanta Dariya, Joseph L Edmonds, Edward I Lee, Frank J Probst, Muralidhar H Premkumar

Journal: Eur. J. Pediatr.. 2014 Dec;173(12):1741-4.

 

We describe an infant with popliteal pterygia, syngnathia, cleft lip and palate, and retrognathia diagnosed with popliteal pterygium syndrome (PPS). The neonatal course was complicated by severe obstructive apnea necessitating tracheostomy.

Last Updated: 27 Nov 2014

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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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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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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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