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Popliteal Pterygium Syndrome

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Atlas of Genetic Diagnosis and Counseling

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Abstract

In 1968, Gorlin et al. (1968) 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.

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Authors and Affiliations

  1. Medical Genetics, Shriners Hospitals for Children, Shreveport, LA, USA

    Harold Chen

  2. Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, 1501 Kings Highway, Shreveport, LA, 71130, USA

    Harold Chen

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  1. Harold Chen
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Correspondence to Harold Chen .

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Chen, H. (2016). Popliteal Pterygium Syndrome. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6430-3_195-2

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  • DOI: https://doi.org/10.1007/978-1-4614-6430-3_195-2

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  • Publisher Name: Springer, New York, NY

  • Online ISBN: 978-1-4614-6430-3

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