Acheiropodia

Acheiropodia (ACHP) is an autosomal-recessive[1] disorder that results in hemimelia, a lack of formation of the distal extremities.

Acheiropodia
Other namesHorn-Kolb syndrome, acheiropody and aleijadinhos (Brazilian type)
Acheiropodia has an autosomal recessive pattern of inheritance
SpecialtyMedical genetics Edit this on Wikidata

This is a congenital defect that consists of bilateral amputations of the distal upper and lower extremities, as well as aplasia of the hands and feet. Specifically, individuals with acheiropody are born with complete amputation of the distal humeral epiphysis and tibial diaphysis, as well as aplasia of the radius, ulna, fibula, and all hand and foot bones.[2] It was first discovered and is prevalent almost exclusively in Brazil.[3]

Genetics

ACHP has been associated with a mutation in the LMBR1 gene.[4] The disorder is inherited in an autosomal-recessive manner.[1] This means the defective gene responsible for the disorder is located on an autosome, and two copies of the defective gene (one inherited from each parent) are required to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.

References
  1. Escamilla, Ma; Demille, Mc; Benavides, E; Roche, E; Almasy, L; Pittman, S; Hauser, J; Lew, Df; Freimer, Nb; Whittle, Mr (June 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.
  2. "Acheiropody". Genetics and Rare Diseases Information Center. Archived from the original on 16 April 2021. Retrieved 12 February 2023.
  3. Freire-Maia, A; Opitz, John M. (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.
  4. Ianakiev P, van Baren MJ, Daly MJ, et al. (January 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.
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