Ellis Van Creveld Syndrome Essay

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For my paper I chose to write about Ellis-Van Creveld syndrome. This disorder is a gentic disorder that is very rare. In many parts of the world, Ellis-van Creveld syndrome occurs in 1 in 60,000 to 200,000. It is characterized by additional fingers and/or toes (also known as polydactyly), abnormal development of fingernails, short limb dwarfism, and over half the cases have shown congenital heart defects. Ellis-Van Creveld syndrome is associated with abnormalities or mutations in two genes on the number 4 chromosome. This syndrome is inherited as an autosomal recessive genetic condition, which means both copies of the gene in each cell have mutations. The parents of a child with an autosomal recessive condition each carry one copy of the mutated

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