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Acheiropodia

Congenital Malformations and Chromosomal Abnormalities

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
Causative Agent
Causative Agent (category)
Genetic / Hereditary 1
Classification
Body System
Skeletal System 1
First Described
1929 1
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
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