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IRF6-Related Disorders

Abstract

You are reading a NORD Rare Disease Report Abstract. NORD’s full collection of reports on over 1200 rare diseases is available to subscribers (click here for details). We are now also offering two full rare disease reports per day to visitors on our Web site.

NORD is grateful to Jeff Murray, MD, Division of Neonatology, Department of Pediatrics, University of Iowa, and Jennifer Rigdon, MSN-CNL, RN, Research Study Coordinator, Department of Pediatrics, Murray & Lidral Craniofacial Genetics Labs & The National Children's Study, University of Iowa, for assistance in the preparation of this report.

Synonyms of IRF6-Related Disorders

  • popliteal pterygium syndrome
  • Van der Woude syndrome

Disorder Subdivisions

  • No subdivisions found.

General Discussion

IRF6-related disorders include a spectrum of 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. Individuals with VWS can have lip pits alone, cleft lip or cleft palate alone, or a combination of these anomalies.

The physical features associated with PPS include cleft lip and/or cleft palate, lower lip pits, webbed skin (pterygium) on the backs of both legs (popliteal) and between the legs (intercrural), malformation and/or underdevelopment of the genitals, webbing or fusion of the fingers and/or toes (syndactyly), adhesion of upper and lower jaw (intraoral adhesions), and adhesion of upper and lower eyelids (ankyloblepharon). A cone-shaped fold of skin on the nail of the big toe is a very distinctive finding in this condition.

Organizations related to IRF6-Related Disorders

(Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder [e.g., cleft palate, speech impairment, etc.].)

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