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GENATLAS PHENOTYPE
last update : 21-01-2014
Symbol VWS3
Location 1p36.11
Name van der Woude syndrome 3
Corresponding gene GRHL3
Main clinical features
  • developmental disorder characterized by pits and/or sinuses of the lower lip, and cleft lip and/or cleft palate
  • frequent cleft palate and less likely cleft lip or lip pits than individuals with an IRF6 mutation
  • Genetic determination autosomal dominant
    Prevalence 5p100 of VWS-affected individuals were identified with mutations in GRHL3
    Function/system disorder other
    Type disease
    Remark(s) . GRHL3 mutations abrogated periderm development and were consistent with a dominant-negative effect, in contrast to haploinsufficiency seen in most VWS cases caused by IRF6 mutations (PMID: 24360809))