Ellis-van Creveld syndrome is a rare autosomal recessive genetic disorder with an unknown exact prevalence. Approximately 150 cases have been reported in the literature over the last 50 years, with a higher incidence notably in the Amish population.

Clinically, the syndrome is characterized by a tetrad of features: short stature with disproportionately short limbs, postaxial polydactyly (extra fingers and/or toes), ectodermal dysplasia manifesting as dysplastic nails and dental anomalies, and a high prevalence of congenital heart defects, primarily atrial septal abnormalities such as common atrium [1-5].

The disease is caused by mutations in the EVC, EVC2, and less frequently DYNC2LI1 or other genes. These genes play critical roles in the structure and function of the primary cilium, a cellular organelle essential for signal transduction during embryonic development of cartilage and ectodermal tissues. Recent molecular genetic studies have reinforced the classification of EVC as a ciliopathy and pave the way for potential targeted therapeutic interventions [1].

A hallmark of the syndrome is a narrow chest due to shortened ribs, which results in reduced thoracic compliance and often severe postnatal respiratory distress. This respiratory impairment is a major source of morbidity and frequently demands intensive neonatal and pediatric respiratory support.

In addition to the cardinal skeletal and cardiac manifestations [6-8], systemic features such as mild developmental delay and distinctive oral abnormalities (including lip and palate malformations, absent or malformed teeth) are described [9,10]. Current treatment remains supportive and multidisciplinary. Cardiac surgery to correct congenital defects – usually undertaken in childhood – is standard care. Pulmonary management, including mechanical ventilation when needed, is life-saving. Advances in surgical techniques and intensive care over recent years have improved long-term survival rates, especially in patients with significant cardiopulmonary complications [5-7].

During childhood and adulthood, patients undergo frequently surgical procedures due to cardiac abnormalities [2,3], dental problems as well as orthopedic disabilities. Life expectancy is impaired mainly due to the severity of respiratory distress as well as congenital heart disease in EVC patients [1-5]. Perioperative medicine (e.g., surgical procedures, anaesthesia) should be performed after careful evaluation of the patient and their specific clinical features.