Ellis–van Creveld Syndrome with Common Atrium: A Clinically Diagnosed Case Report with Literature Review

Ellis-van Creveld (EVC) syndrome is a rare, autosomal recessive disorder defined by a classic tetrad of features: chondroectodermal dysplasia causing disproportionate short stature, postaxial polydactyly, ectodermal defects affecting the nails and teeth, and congenital heart disease. The most significant cause of morbidity and mortality is the associated cardiac anomaly, most commonly a large atrial septal defect resulting in a functional common atrium. Early and accurate diagnosis is critical for managing cardiovascular risk and implementing appropriate long-term care. We report the case of a 12-year-old female from Pakistan, with a weight of 26 kg (BMI 18.8 kg/m²), who presented with a classic EVC phenotype. Clinical examination revealed short-limb dwarfism, bilateral postaxial polydactyly of all four limbs, genu valgum, and ectodermal dysplasia. Her parents were non-consanguineous. Cardiovascular evaluation confirmed a common atrium via echocardiography, with corresponding ECG findings of right axis deviation and an incomplete right bundle branch block. Based on this distinct constellation of clinical and imaging evidence, a clinical diagnosis was made, as molecular genetic testing was not available. This case confirms the importance of recognizing the distinct clinical phenotype of Ellis-van Creveld syndrome. In settings where molecular diagnostics are unavailable, a confident diagnosis can be made through thorough clinical assessment. Prompt identification is paramount for initiating multidisciplinary management, thereby improving the patient's long-term health and quality of life, with the patient currently awaiting surgical repair of her cardiac defect and referral for orthopedic and dental care.