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IRF6-related disorders include two different disorders caused by abnormalities in the interferon regulatory factor 6 (IRF6) gene. Van der Woude syndrome (VWS) is at the mild end of the spectrum and popliteal pterygium syndrome (PPS) is at the severe end of the spectrum. The symptoms of IRF6-related disorders vary greatly from case to case. People with VWS can have lip pits alone, cleft lip or cleft palate alone, or a combination of these anomalies. People with PPS have a thick web of skin (pterygium) on the backs of both legs (popliteal), extending from the hip (ischial tuberosity) to the heel (calcaneus) or in other locations, as well as other problems. A cone-shaped fold of skin on the nail of the big toe is a very distinctive finding in PPS. Supportive/symptomatic treatment may include surgery, pediatric dentistry, orthodontia, speech therapy, feeding and hearing evaluation, physical therapy, and orthopedic care.
Source: GARD Last updated on 05-01-20
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