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van der Woude syndrome (lip-pit syndrome)
Genetics:
- autosomal dominant
- penetrance is incomplete & expressivity is variable
- associated with defects in IRF6
- Van der Woude & popliteal pterygium syndrome are allelic disorders
Clinical manifestations:
- lower lip pits
- cleft lip &/or cleft palate
General
genetic syndrome (multisystem disorder)
developmental disorder
Database Correlations
OMIM 119300
References
UniProt :accession O14896