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popliteal pterygium syndrome
Genetics:
- autosomal dominant
- penetrance is incomplete & expressivity is variable
- associated with defects in IRF6
- Van der Woude syndrome & popliteal pterygium syndrome are allelic disorders
Clinical manifestations:
- skin & genital anomalies
- cleft lip &/or cleft palate
- orofacial phenotypic similarities with van der Woude syndrome
General
genetic syndrome (multisystem disorder)
developmental disorder
Database Correlations
OMIM 119500
References
UniProt :accession O14896