Velocardiofacial Syndrome

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Abstract
IN 1978 SHPRINTZEN et al1 first described the velocardiofacial syndrome (VCFS) in 12 children with similar presentations of cleft palate, cardiac anomalies, typical facies, and learning disbilities. Since then, several hundred patients have been identified with VCFS. Dominant clinical features of VCFS include overt or submucous clefting of the secondary palate, velopharyngeal insufficiency, auricular abnormalities, lymphoid hypoplasia, ventriculoseptal defect, psychiatric disturbance, and learning disability.2 Sedlánocodeková as cited by Vrtinocodeka et al3 observed a similar pattern of velar hypoplasia or submucous clefting accompanied by hypernasal speech, facial dysmorphisms, pointed digits, cardiac malformations, and mental retardation in 48 children of Eastern European origin and named it "velofacial hypoplasia."