Ellis-van Creveld syndrome

Ellis–van Creveld syndrome is a genetic disorder that involves numerous anomalies, including polydactyly and congenital heart defects. It is possessed in high percentages in isolated human populations, particularly the Amish communities of Pennsylvania and the inhabitants of some small islands, due to the lack of genetic variability (see founder effect).

Ellis–van Creveld syndrome is caused by a mutation in either the EVC or EVC2 gene, both of which are located on the short arm of human chromosome 4. Despite the fact that the disorder has been linked to these genes, the function of healthy EVC and EVC2 genes is still not well understood.