Ellis-van Creveld syndrome (EVC) is a rare, autosomal recessive disorder with unknown prevalence (about 150 cases were published in the last 50 years, higher prevalence in Amish communities). It is characterised by a tetrad of short stature, short limbs, postaxial polydactylism (supernumerary fingers and / or toes), ectodermal dysplasia and a high prevalence of congenital heart defects (mainly abnormalities of atrial septation) [1,2].
Mutations in the EVC, EVC2 and DYNC2LI1 genes are causative for this disease. Relevant clinical symptoms arise from the disorder of chondral and ectodermal tissues in the body. A narrow thorax due to the shortness of ribs may result in severe postnatal respiratory distress . Dysplastic nails and teeth are further typical symptoms of the disorder. There is no cure for this disease and treatment is mostly symptomatic, involving treatment of respiratory distress due to the narrow chest and the combination with heart failure due to cardiac abnormalities . Cardiac surgery is regularly performed in childhood for correction of the congenital heart defects. During childhood and adulthood, patients frequently undergo surgical procedures due to cardiac abnormalities [2,3], dental problems as well as orthopaedic disabilities. Life expectancy is impaired mainly due to the severity of respiratory distress as well as congenital heart disease in EVC patients [1-3,4,5]. Peri-operative medicine (e.g. surgical procedures, anaesthesia) should be performed after careful evaluation of the specific patient and her/his specific clinical features.