Alternative Names
Chondroectodermal Dysplasia
Symptoms & Characteristics
Ellis-van Creveld syndrome is a genetic condition that affects bone growth and results in very short stature (dwarfism). People with this condition have particularly short forearms and lower legs and a narrow chest with short ribs. Additional features of this condition include the presence of extra fingers and toes (polydactyly), unusually formed nails and teeth, and heart defects.
Treatment
Early diagnosis, routine surveillance and treatment of Ellis-van Creveld syndrome may help to manage some of the symptoms.
How Common Is It?
In most parts of the world, Ellis-van Creveld syndrome occurs in 1 in 60,000 to 1 in 200,000 newborns. However, it is much more common in the Old Order Amish population of Lancaster County, Pennsylvania and in the indigenous (native) population of Western Australia.
Genetics & Inheritance
Ellis-van Creveld syndrome is caused by mutations in either the EVC or EVC2 gene.
Ellis-van Creveld syndrome is thought to be inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
In some cases, affected people have only one identifiable mutated copy of either the EVC or EVC2 gene. Researchers believe that additional yet to be identified mutations in either the EVC or EVC2 gene, or mutations in other genes, may be associated with Ellis-van Creveld syndrome in these cases.
Genetic Testing
Clinical genetic testing for Ellis-van Creveld syndrome may be available through an in person genetic consultation for people who are considered at risk. Use our find a genetic professional directory to locate a trained genetic professional in your area.
Support & More Information
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