National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

IRF6-Related disorders

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.[1] A cone-shaped fold of skin on the nail of the big toe is a very distinctive finding in PPS.[1][2] Supportive/symptomatic treatment may include surgery, pediatric dentistry, orthodontia, speech therapy, feeding and hearing evaluation, physical therapy, and orthopedic care.[2]
Last updated: 2/27/2016

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.

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  1. IRF6-Related Disorders. National Organization of Rare Diseases (NORD). 2012; http://rarediseases.org/rare-diseases/irf6-related-disorders/.
  2. Schutte BC, Saal HM, Goudy S & Leslie E. IRF6-Related Disorders. GeneReviews. July 3, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1407/.