Acheiropodia

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Acheiropodia
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OMIM 200500
DiseasesDB 32738

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Overview

Acheiropodia, also known as Horn Kolb Syndrome, Acheiropody and Aleijadinhos (Brazilian type), is an autosomal recessive[1] disorder that results in hemimelia, a lack of formation of the distal extremities.

This is a congenital defect which consists of bilateral amputations of the distal upper and lower extremities, as well as aplasia of the hands and feet. It was first discovered and is prevalent almost exclusively in Brazil.[2]

Genetics

It has been associated with a mutation in the LMBR1 gene.[3]

Acheiropodia has an autosomal recessive pattern of inheritance.

References

  1. Escamilla, Ma; Demille, Mc; Benavides, E; Roche, E; Almasy, L; Pittman, S; Hauser, J; Lew, Df; Freimer, Nb; Whittle, Mr (2000). "A minimalist approach to gene mapping: locating the gene for acheiropodia, by homozygosity analysis". American journal of human genetics. 66 (6): 1995–2000. doi:10.1086/302921. PMC 1378047. PMID 10780921. Unknown parameter |month= ignored (help)
  2. Freire-Maia, A (1981). "Historical note: the extraordinary handless and footless families of Brazil - 50 years of acheiropodia". American journal of medical genetics. 9 (1): 31–41. doi:10.1002/ajmg.1320090108. PMID 7018242.
  3. Ianakiev P, van Baren MJ, Daly MJ; et al. (2001). "Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene". Am. J. Hum. Genet. 68 (1): 38–45. doi:10.1086/316955. PMC 1234933. PMID 11090342. Unknown parameter |month= ignored (help)

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