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Diseases

Genetic and Rare Diseases Information Center (GARD)

Van der Woude syndrome


Other Names for this Disease
  • VDWS
  • VWS
  • Lip pit syndrome
  • LPS
  • Cleft lip and/or palate with mucous cysts of lower lip
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Tests & Diagnosis

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How is Van der Woude syndrome diagnosed?

Van der Woude syndrome should be considered in every child born with a cleft lip and/or palate. A clinical evaluation by a medical geneticist is generally performed to document all relevant clinical findings. In addition, the parents should be examined for isolated lip pits, cleft palate, and hypodontia (missing teeth). To make a clinical diagnosis of Van der Woude syndrome, at least one of the following findings must be present:[1]
  • Lip pits and cleft lip AND/OR palate (CLP). Lip pits must be paramedian on the lower lip, and can include mounds with a sinus tract leading from a mucous gland of the lip.

  • Lip pits alone and a first-degree relative with CLP

  • CLP and a first-degree relative with lip pits

Genetic testing for mutations in the IRF6 gene can also be used to diagnose this condition.[1] Genetic Testing Registry lists the names of laboratories that are performing genetic testing for Van der Woude syndrome. Please note: Most of the laboratories listed through this resource do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.
Last updated: 3/4/2016

References
  1. Schutte BC, Saal HM, Goudy S, Leslie E. IRF6-Related Disorders. GeneReviews. July 3, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1407/.


Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Other Names for this Disease
  • VDWS
  • VWS
  • Lip pit syndrome
  • LPS
  • Cleft lip and/or palate with mucous cysts of lower lip
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.