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Browse result for Van der Woude syndrome

※ introduction

    Van der Woude syndrome (VDWS) is a genetic disorder characterized by the combination of lower lip pits, cleft lip with or without cleft palate (CL/P), and cleft palate only (CPO). The frequency of orofacial clefts ranges from 1:1000 to 1:500 births worldwide, and there are more than 400 syndromes that involve CL/P. VWS is distinct from other clefting syndromes due to the combination of cleft lip and palate (CLP) and CPO within the same family. Other features frequently associated with VWS include hypodontia in 10-81% of cases, narrow arched palate, congenital heart disease, heart murmur and cerebral abnormalities, syndactyly of the hands, polythelia, ankyloglossia, and adhesions between the upper and lower gum pads. The association between lower lip pits and cleft lip and/or palate was first described by Anne Van der Woude in 1954. The worldwide disease incidence ranges from 1:100,000 to 1:40,000.

Reference
Wiki: Van der Woude syndrome



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD02452O148963664
IRF6
Interferon regulatory factor 6
Homo sapiens
PTMD10423Q8TE8557822
GRHL3
Grainyhead-like protein 3 homolog
Homo sapiens