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Related Experiment Videos

[Van-der-Woude Syndrome].

B Del Frari1, M Amort, A R Janecke

  • 1Universitätsklinik für Plastische- und Wiederherstellungschirurgie der Medizinischen Universität Innsbruck, Austria.

Klinische Padiatrie
|December 21, 2007
PubMed
Summary
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Van-der-Woude syndrome, a rare genetic disorder, presents with variable symptoms like lip pits and clefts. Mutations in the IRF6 gene are confirmed in affected families, highlighting the need for genetic diagnosis and counseling.

Area of Science:

  • Genetics
  • Medical Genetics
  • Developmental Biology

Background:

  • Van-der-Woude syndrome (VWS) is a rare autosomal dominant disorder.
  • VWS typically manifests as congenital lower lip pits, often accompanied by cleft lip or palate.
  • The syndrome exhibits variable expressivity and high penetrance (0.89-0.99).

Observation:

  • Two families presented with distinct clinical manifestations of VWS.
  • Genetic analysis confirmed mutations in the IRF6 gene in both families.
  • The study observed differing degrees of symptom expression among affected individuals.

Findings:

  • IRF6 gene mutations are definitively linked to Van-der-Woude syndrome.
  • Variable expression of VWS symptoms was noted even within families with the same mutation.

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  • Accurate diagnosis requires thorough examination of patients and their parents.

    • Implications:

    • Early and accurate diagnosis of VWS is crucial for patient management.
    • Genetic testing for IRF6 mutations aids in diagnosing VWS.
    • Genetic counseling is recommended for families affected by VWS to understand inheritance patterns and risks.