A novel tool to identify covert syndromes in children with cleft lips and palate.

Abstract

Cleft lip (CL) and cleft palate (CP) are congenital craniofacial anomalies characterized by incomplete fusion of the lip and/or the roof of the mouth during embryonic development. CL/CP are considered syndromic if they are associated with at least 1 another congenital malformation. The main goal of our study was to create a concise, simple tool for clinicians to help them identify, in children with clefts, covert syndromes, taking into consideration clinical, preclinical, and infraclinical signs and symptoms. We used the Human Phenotype Ontology website database, which uses ORPHANET, OMIM, and DECIPHER to classify phenotypical abnormalities and gives the frequency for each syndrome. Data about each syndrome was retrieved from the literature. We used PubMed and focused on the most recent articles, reviews of the literature, and consensus of experts. We created 4 double entry charts: a concise version and an exhaustive version both for CP alone and for CL and CLP. Our tool is accessible to all practitioners who will be called upon to manage these patients. Our tool allows for easy identification of possible syndromes in case of suspected associated anomalies and provides a solid basis for future studies of syndromic CL and/or CP. Our methodology could be applied to other pathologies or anomalies within the scope of pediatric surgery.