Congenital amputations

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human disease

medical condition

birth defect in which an entire limb is missing

Human disease

congenital absence of the fibula

Acheiropodia, also known as Horn Kolb syndrome, is a genetic condition that affects limb development, resulting in shortened arms and legs and absent hands and feet on both sides of the body at birth. Specifically, individuals are born missing the epiphysis typically found at the end of the humerus bone of the upper arm, the diaphysis which makes up the long section of the tibia bone of the shin, the radius and ulna bones which make up the lower arm, the fibula bone of the shin, and all hand and foot bones. It was first discovered and is prevalent almost exclusively in Brazil.

human disease

Hemimelia is a birth defect consisting in unilateral or bilateral underdevelopment of the distal part of the lower or upper limb. The affected bone may be shortened or not develop at all.