Popliteal Pterygium Syndrome
In 1968, Gorlin et al. described an autosomal dominant form of popliteal pterygium syndrome (PPS), a syndrome comprising cleft lip and palate, popliteal and intercrural pterygia, and digital and genital anomalies. Van der Woude syndrome (VWS) is one of the most common oral cleft syndromes. It accounts for about 2% of all cleft lip and palate cases. Both syndromes are caused by IRF6 mutations.
In 1972, Bartsocas and Papas reported on four sibs of third-cousin parents with a severe, presumably autosomal recessive form of popliteal pterygium syndrome.
Synonyms and Related Disorders
Bartsocas-Papas syndrome; IRF6-Related Disorders including Van der Woude syndrome
Interferon regulatory factor 6 (IRF6) encodes a member of the IRF family of transcription factors (de Lima et al. 2009)
Mutations in IRF6 cause popliteal pterygium syndrome and Van der Woude syndrome.
Popliteal pterygium syndrome
Inherited as an autosomal dominant trait
KeywordsCleft Palate Preimplantation Genetic Diagnosis Ischial Tuberosity Fibrous Band Oral Cleft
- De Lima, R. L. L. F., Hoper, S. A., Ghassibe, M., et al. (2009). Prevalence and non-random distribution of exonic mutations in Interferon Regulatory Factor 6 (IRF6) in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome. Genetics in Medicine, 11, 241–247.PubMedCrossRefGoogle Scholar
- Durda, K. M., Schutte, B. C. (2011). IRF6-related disorders. GeneReviews. Retrieved March 1, 2011. Available at: http://www.ncbi.nlm.nih.gov/books/NBK1407/
- Gorlin, R. J., Cohen, A. A., & Hennekam, R. C. M. (2001). Syndromes of the head and neck (Vol. 4). Oxford: Oxford University Press.Google Scholar
- Reich, E., Wishnick, M., McCarthy, J., et al. (1984). Long term follow-up in an 8-year old with the “lethal” popliteal pterygium syndrome (Bartsocas-Papas syndrome). American Journal of Human Genetics, 36(Suppl.), 70s.Google Scholar