Unroofed coronary sinus syndrome (UCSS), also named coronary sinus (CS) septal defect, is a rare type of atrial septal defect (ASD) with the incidence less than 1% of the total number of ASDs. It is caused by incomplete formation of left atrial venous folds during embryonic development. There is communication between the CS and left atrium (LA) due to the presence of a left superior vena cava (LSVC) along with an incomplete or complete loss of the CS roof draining into the LA. It usually presents as mild breathlessness on exertion and the appearance of murmurs on auscultation. A case that is diagnosed as an unroofed CS (UCS) related to a continuous LSVC terminating into the CS, which further terminates into LA, along with a large patent ductus arteriosus (PDA) is a rare presentation.

Ellis-Van Creveld syndrome (EVCS) is an abnormal genetic condition of the EVC2 gene located on chromosome 4. In this case, the person presents with bone growth abnormalities, thus having a short stature, short arms and legs (more commonly the forearm and lower leg), a narrow chest with short ribs, polydactyly, spoon-shaped or malformed nails, abnormalities in dentition, and congenital heart defects like atrial septal defects and ventricular septal defects. In this case report, we present a 4.5-year-old female child who presented with cough and cyanosis as signs and tachypnea, tachycardia, facial oedema, cold, and clubbing as symptoms with polydactyly and short stature focuses on a rare presentation of a syndromic disease known as EVCS.