Ellis-van Creveld syndrome
Referenced from U.S. National Library of Medicine (1)

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

How common is Ellis-van Creveld syndrome?
In most parts of the world, Ellis-van Creveld syndrome occurs in 1 in 60,000 to 200,000 newborns. It is difficult to estimate the exact prevalence because the disorder is very rare in the general population.

How do people inherit Ellis-van Creveld syndrome?
This condition is 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.

Although most people with Ellis-van Creveld syndrome have mutations in both copies of the EVC or EVC2 gene in each cell, some affected people have only one mutated copy of the gene in each cell. Researchers believe that as-yet unidentified mutations in the EVC or EVC2 gene, or mutations in other genes, may be associated with Ellis-van Creveld syndrome in these cases.

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

• Chondroectodermal Dysplasia

(1) Genetics Home Reference, Conditions: Ellis-van Creveld syndrome [Internet]. U.S. National Library of Medicine; [reviewed May 2008; published October 17, 2010]. [about 2 screens]. Available from: http://ghr.nlm.nih.gov/condition/ellis-van-creveld-syndrome