Ellis-Van Creveld Syndrome

What is Ellis-van Creveld syndrome?

Ellis-van Creveld syndrome is an inherited disorder of bone growth that results in short stature (dwarfism). People with this condition have particularly short forearms and lower legs and short ribs. Ellis-van Creveld syndrome is also characterised by the presence of extra fingers and toes (polydactyly), unusually formed nails and teeth, and heart defects.

How common is Ellis-van Creveld syndrome?

Ellis-van Creveld syndrome is rare in most parts of the world, occurring in fewer than 1 in 200,000 births. The disorder is much more common in the Old Order Amish population of Lancaster County, Pennsylvania.

What genes are related to Ellis-van Creveld syndrome?

Mutations in the EVC and EVC2 genes cause Ellis-van Creveld syndrome.

Researchers have not yet determined the functions of the EVC and EVC2 genes, but they have identified mutations in both genes that can cause Ellis-van Creveld syndrome. Most of these mutations result in the production of abnormally small, nonfunctional EVC or EVC2 proteins. How mutations in these genes lead to dwarfism and other features of Ellis-van Creveld syndrome is not yet known

How do people inherit Ellis-van Creveld syndrome?

This condition is inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder are carriers of one copy of the altered gene but do not show signs and symptoms of the disorder.

What other names do people use for Ellis-van Creveld syndrome?

• Chondroectodermal Dysplasia