Late diagnosis of Ellis-Van Creveld syndrome case report

Ellis–van Creveld syndrome (EVC) is a rare autosomal recessive disorder caused by mutations in the EVC and EVC2 gene. The four principal manifestations are chondrodysplasia, polydactyly, ectodermal dysplasia and congenital heart defects. We describe the case of a 7-year-old girl with EVC Syndrome. The diagnosis based on her clinical presentation. Echocardiography revealed common atrium with partial atrioventricular septal defect. She underwent a successful surgical repair. Treatment required the coordinated efforts of a team of specialists. Prenatal abnormalities can be detected by ultrasound examination. The correct diagnosis of this disorder in early life is essential in the overall prognosis of the syndrome. Clinical follow-up at regular intervals is very important in these patients to prevent complications and to institute timely managements. •Ellis–van Creveld syndrome is a rare autosomal recessive disorder caused by mutations in the EVC and EVC2 gene.•The four principal manifestations are chondrodysplasia, polydactyly, ectodermal dysplasia and congenital heart defects.•Every case of EVC syndrome needs to be managed individually by a team of specialists.•Early treatment and care of these patients can enhance their quality of life and improve prognosis.