Van der Woude and Popliteal Pterygium Syndromes

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Abstract

Van der Woude syndrome is the most generic form of syndromic orofacial cleft, present in approximately 2% of all cleft patients. The lower lip pits with or without cleft lip and/or palate is typical of this syndrome. Popliteal pterygium syndrome (PPS), also known as popliteal web syndrome or fasciogenito-popliteal syndrome, was first described by Trelat in 1869, the incidence is approximately 1 in 300,000 live births. The term PPS was coined by Gorlin et al in 1968 based on the most unusual anomaly, the popliteal pterygium. Popliteal pterygium syndrome shares features with van der Woude syndrome but, in addition, is characterized by genital anomalies, syndactyly of fingers and toes, and toenail dysplasia. In some patients, oral or eyelid synechiae are present. Van der Woude syndrome and PPS are autosomal dominantly inherited disorders caused by heterozygous mutations in IRF6.

Objective:

To report the familial nature of the disease in the mother and son, and to summarize the clinical characteristics, treatment, and outcomes in both patients.

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