Ellis-van Creveld syndrome with syndactyly, hydrocephalus and cleft palate: A normal variant of Ellis-van Creveld or a new syndrome?

Abstract

Ellis-van Creveld (EVC) syndrome is an uncommon disease which classically presents as a combination of heart anomalies, dwarfism, polydactyly and ectodermal dysplasia. We report an atypical case of EVC syndrome, which involves the nervous system in the form of hydrocephalus besides having an atypical inheritance pattern. Whether it is a conventional case of EVC syndrome or a new syndrome needs to be ascertained as this may have important diagnostic and management related implications for the patient.