Ellis-van Creveld Syndrome (EVC-Related) (EVC)
Ellis-van Creveld syndrome (EVC-related) is a rare, autosomal recessive disease caused by pathogenic variants in the gene EVC. While it is found across multiple ethnicities, certain Amish communities have a higher prevalence of this disease. This disease results in short-limb dwarfism, extra fingers, and dysplastic nails and teeth. Heart defects are common and intelligence is usually normal. Life expectancy may be reduced for patients who have severe heart defects or respiratory problems due to a small ribcage. It is not currently possible to predict the severity of the phenotype based on genotype. EVC is allelic with Weyers acrofacial dysostosis, an autosomal dominant condition.
For information about carrier frequency and residual risk, please see the Expanded Carrier Screen brochure.