Variable phenotypic manifestation of IRF6 mutations in the Van der Woude syndrome and popliteal pterygium syndrome: implications for genetic counseling

2009 ◽  
Vol 18 (4) ◽  
pp. 225-227 ◽  
Author(s):  
Arjan C. Houweling ◽  
Johan J.P. Gille ◽  
Jacques A. Baart ◽  
Johanna M. van Hagen ◽  
Augusta M. Lachmeijer
Keyword(s):  
Genetic Counseling ◽  
Van Der Woude Syndrome ◽  
Phenotypic Manifestation ◽  
Popliteal Pterygium Syndrome ◽  
Popliteal Pterygium

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

2012 ◽  
Vol 15 (5) ◽  
pp. 338-344 ◽  
Author(s):  
Elizabeth J. Leslie ◽  
Jennifer Standley ◽  
John Compton ◽  
Sherri Bale ◽  
Brian C. Schutte ◽  
...  
Keyword(s):  
Comparative Analysis ◽  
Van Der Woude Syndrome ◽  
Whole Exome ◽  
Popliteal Pterygium Syndrome ◽  
Popliteal Pterygium

scholarly journals Novel IRF6 mutations in families with Van Der Woude syndrome and popliteal pterygium syndrome from sub‐Saharan Africa

2014 ◽  
Vol 2 (3) ◽  
pp. 254-260 ◽  
Author(s):  
Azeez Butali ◽  
Peter A. Mossey ◽  
Wasiu L. Adeyemo ◽  
Mekonen A. Eshete ◽  
LauRen A. Gaines ◽  
...  
Keyword(s):  
Sub Saharan Africa ◽  
Van Der Woude Syndrome ◽  
Popliteal Pterygium Syndrome ◽  
Sub Saharan ◽  
Popliteal Pterygium

scholarly journals Popliteal Pterygium Syndrome (Facio-Genito-Popliteal Syndrome)

2016 ◽  
Vol 2 (1) ◽  
pp. 33-43
Author(s):  
N. Mariappan ◽  
Keyword(s):  
Genetic Counseling ◽  
Cleft Palate ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Dental Treatment ◽  
Molecular Genetic ◽  
Optimal Time ◽  
Lower Lip ◽  
Popliteal Pterygium Syndrome ◽  
Popliteal Pterygium

Background: IRF6-related disorders span a spectrum from isolated cleft lip and palate and Van der Woude syndrome (VWS) at the mild end to popliteal pterygium syndrome (PPS) at the more severe end. Popliteal pterygia are found in popliteal pterygium syndrome, multiple pterygium syndrome and Arthrogryposis. The popliteal pterygium syndrome is a rare congenital condition, in which the patient has facial, genitourinary and skeletal anomalies along with popliteal pterygium. Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformation disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail. AD-PPS is associated with mutations in the IRF6 gene (1q32.2-q32.3), involved in the formation of connective and epithelial tissues. Almost all affected patients harbor mutations in this gene. The word ‘pterygium’ is derived from the Greek word pterygion, which means wing. Pathologically it denotes a wing-like abnormal band of tissue. The most obvious characteristics of this syndrome are popliteal pterygium and a triangular crease of skin over the hallux. The orofacial findings include cleft lip, cleft palate, lower lip pits, a few missing teeth, and severely decayed teeth. The dental problems are overshadowed by the major syndromic manifestations. These patients have special dental needs and early preventive dental care and appropriate dental treatment at the optimal time is important. Diagnosis of pterygium syndrome is based on the clinical findings and confirmed by molecular genetic testing. AD-PPS is highly associated with missense mutations that alter residues that are predicted to interact directly with DNA in exons 3 and 4 of IRF6. Conclusion: An understanding of the molecular genetic basis of this syndrome is essential for prenatal diagnosis and also for genetic counseling of the parents. Keywords: Popliteal pterygium syndrome, Escobar syndrome, Magnetic resonance imaging, Congenital contractures, Genetic counseling.

scholarly journals Hemiscrotal agenesis with complete testicular descent in Van der Woude syndrome: a new phenotypic feature

2019 ◽  
Vol 12 (9) ◽  
pp. e229938 ◽  
Author(s):  
Dilharan D Eliezer ◽  
Himanshu Goel ◽  
Virginia M Turner ◽  
Aniruddh Deshpande
Keyword(s):  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Treatment Options ◽  
Testicular Descent ◽  
Van Der Woude Syndrome ◽  
Phenotypic Feature ◽  
Midline Defects ◽  
Popliteal Pterygium Syndrome ◽  
Testicular Thermoregulation ◽  
Popliteal Pterygium

Van der Woude syndrome (VWS) and popliteal pterygium syndrome (PPS) spectrum are due to genetic variants in the IRF6 which phenotypically has been known to manifest with midline defects such as cleft lip and palate in VWS and additional nail, limb and genital anomalies in PPS. We report a case of VWS with the previously unrecognised phenotypic feature of hemiscrotal agenesis. While bifid scrotum has been reported in the more severe PPS, neither VWS nor PPS have previously noted hemiscrotal agenesis as part of the phenotypic picture. Hemiscrotal agenesis without evidence of any genetic anomaly has only been reported four times in the literature to date with two of these being accompanied by complete testicular descent. Treatment options include topical androgen application and/or scrotoplasty to allow for adequate testicular thermoregulation and development to occur.

Popliteal pterygium syndrome with unusual features

2004 ◽  
Vol 71 (3) ◽  
pp. 269-270 ◽  
Author(s):  
C. K. Sasidharan ◽  
K. V. Ravi
Keyword(s):  
Popliteal Pterygium Syndrome ◽  
Popliteal Pterygium

Endoscopic Release of Intraoral Synechiae in Popliteal Pterygium Syndrome

2002 ◽  
Vol 49 (5) ◽  
pp. 550-552 ◽  
Author(s):  
Fabrizio Schonauer ◽  
Ivan La Rusca ◽  
Desiree Sordino ◽  
Alessandro Settimi ◽  
Guido Molea
Keyword(s):  
Endoscopic Release ◽  
Popliteal Pterygium Syndrome ◽  
Popliteal Pterygium
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