Acheiropodia, also called Horn-Kolb syndrome, is a genetic condition affecting limb development. Babies are born with shortened arms and legs and with no hands or feet on either side of the body, lacking the end of the upper arm bone, much of the shin bone, the forearm bones, the fibula and all of the hand and foot bones. It was first described in Brazil in 1929, and it is found almost exclusively there, although cases have been reported in Turkey, Argentina, Ireland and the United States. The condition is autosomal recessive, caused by a change in the C7orf2 gene that removes a needed protein-coding segment, so that both copies of the gene must be altered for it to appear. An estimated three people in every ten million are affected.
Facts
Classification
Communicable or Non-communicable Transmission Route Causative Agent
Causative Agent (category) First Described Sources
1. Acheiropodia (Wikipedia)
Lead
is a genetic condition that affects limb development
Lead [body-system]
individuals are born missing the epiphysis typically found at the end of the humerus bone of the upper arm
Discovery and prevalence
Acheiropodia was first described in Brazil in 1929
Lead, communicable or non communicable
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.
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