It involves numerous anomalies including: Ellis–Van Creveld syndrome often is the result of founder effects in isolated human populations, such as the Amish and some small island inhabitants.

Although relatively rare, this disorder does occur with higher incidence within founder-effect populations due to lack of genetic variability.

Observation of the inheritance pattern has illustrated that the disease is autosomal recessive, meaning that both parents have to carry the gene in order for an individual to be affected by the disorder.

As a result of new genetic research, some of these are, in fact, highly related in their root cause despite the widely varying set of medical symptoms that are clinically visible in the disorders.

The underlying cause may be a dysfunctional molecular mechanism in the primary cilia structures of the cell, organelles which are present in many cellular types throughout the human body.

The cilia defects adversely affect "numerous critical developmental signaling pathways" essential to cellular development and thus offer a plausible hypothesis for the often multi-symptom nature of a large set of syndromes and diseases.