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Horn Kolb syndrome

Horn Kolb syndrome Causes

Horn Kolb syndrome is caused by a genomic deletion in C7orf2, the human orthologue of the lmbr1 gene.

Horn Kolb syndrome Definition

Horn Kolb syndrome, also known as acheiropodia, is an autosomal recessive disease that results in hemimelia, a lack of formation of the distal extremities. This is a congenital defect which is made up of bilateral amputations of the distal upper and lower extremities, as well as aplasia of the hands and feet. It is almost endemic to Brazil.

Horn Kolb syndrome Symptoms and Signs

Horn Kolb syndrome is characterized by the absence of hands and feet.

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