Van der Woude's syndrome (VWS) is an autosomal dominant syndrome (OMIM 119300). It is a craniofacial disorder that manifests in its complete form with lower lip pits, hypodontia and cleft lip and/or palate. It is one of the most common genetic causes of orofacial clefting, having very high penetrance with variable expressivity. The locus for VWS has been mapped on 1q32-41. Mutations in the interferon regulatory factor 6 gene have also been identified in patients with VWS associated with popliteal pterygium's syndrome.
A girl with palatoschisis, hypodontia, and lower lip pits
Parano Enrico;
2004
Abstract
Van der Woude's syndrome (VWS) is an autosomal dominant syndrome (OMIM 119300). It is a craniofacial disorder that manifests in its complete form with lower lip pits, hypodontia and cleft lip and/or palate. It is one of the most common genetic causes of orofacial clefting, having very high penetrance with variable expressivity. The locus for VWS has been mapped on 1q32-41. Mutations in the interferon regulatory factor 6 gene have also been identified in patients with VWS associated with popliteal pterygium's syndrome.File in questo prodotto:
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