Classic Ellis–van Creveld syndrome with a homozygous EVC non-sense variant in a child of non-consanguineous parents: A case report

Ellis–van Creveld (EVC) syndrome is a rare autosomal recessive ciliopathy characterized by chondrodysplasia, postaxial polydactyly, ectodermal defects, and, frequently, congenital heart disease. We report a 12-year-8-month-old girl born to non-consanguineous parents who presented with short stature and bone pains. Examination showed disproportionate short stature, postaxial polydactyly, dental and nail anomalies, and a triangular facies, but echocardiography was normal. Exome sequencing identified a homozygous non-sense variant in EVC (c.1739G>A, p.Trp580Ter), confirming classic EVC syndrome. This case highlights that EVC syndrome can present without consanguinity or cardiac involvement, and underscores the value of exome sequencing in confirming the diagnosis.