Ellis-Van Creveld Syndrome (EVC2)
Pathogenic variants in the gene EVC2 cause Ellis-van Creveld syndrome, an autosomal recessive skeletal dysplasia. While it is found across multiple ethnicities, certain Amish communities have a higher prevalence of this disease. Symptoms include 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 rib cage. Certain variants located near the terminus of the EVC2 protein may cause Weyers acrofacial dysostosis, an autosomal dominant disorder that affects the development of teeth, nails, and bones. Dental anomalies include small teeth, peg-shaped teeth, fewer teeth (hypodontia), and one front tooth instead of two. Individuals may also have an abnormal shape of the lower jaw and abnormally small or malformed fingernails and toenails. Life expectancy of affected individuals is typically normal.
For information about carrier frequency and residual risk, please see the residual risk table.