Etiology of facial clefts: prospective evaluation of 428 patients

Abstract

This article presents the results of prospective evaluation of 428 patients with facial clefts or velopharyngeal insufficiency who were evaluated through the Cleft Palate Program at Children's Hospital, San Diego. Children were examined for patterns of major and minor malformations, and an attempt was made to identify the etiology of the overall pattern of altered structure. Results indicate that 14 percent of 259 patients with cleft lip +/- cleft palate, 55 percent of 139 patients with cleft palate, 75 percent of 24 patients with velopharyngeal insufficiency, and 83 percent of 6 patients with atypical clefts had a multiple malformation syndrome. The frequency with which syndromic clefting occurs is higher than previously recognized. Recognition of underlying etiology is important with respect to prognosis and recurrence risk counseling of families and patients. In addition, the underlying diagnosis may significantly impact outcome of medical and surgical treatment of the cleft disorder.