Acheiropodia

Infobox_Disease
Name = Acheiropodia


Caption =
DiseasesDB = 32738
ICD10 =
ICD9 =
ICDO =
OMIM = 200500
MedlinePlus =
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Acheiropodia, also known as Horn Kolb Syndrome, Acheiropody and Aleijadinhos (Brazilian type), is an autosomal recessivecite journal |pmid=10780921 |year=2000 |month=Jun |author=Escamilla, Ma; Demille, Mc; Benavides, E; Roche, E; Almasy, L; Pittman, S; Hauser, J; Lew, Df; Freimer, Nb; Whittle, Mr |title=A minimalist approach to gene mapping: locating the gene for acheiropodia, by homozygosity analysis |volume=66 |issue=6 |pages=1995–2000 |pmc=1378047 |doi=10.1086/302921 |journal=American journal of human genetics ] 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. [cite journal |pmid=7018242 |year=1981 |month= |author=Freire-Maia, A |title=Historical note: the extraordinary handless and footless families of Brazil - 50 years of acheiropodia |volume=9 |issue=1 |pages=31–41 |doi=10.1002/ajmg.1320090108 |journal=American journal of medical genetics]

Genetics

It has been associated with a mutation in the "LMBR1" gene.cite journal |author=Ianakiev P, van Baren MJ, Daly MJ, "et al" |title=Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene |journal=Am. J. Hum. Genet. |volume=68 |issue=1 |pages=38–45 |year=2001 |month=Jan |pmid=11090342 |pmc=1234933 |url=http://linkinghub.elsevier.com/retrieve/pii/S0002-9297(07)62470-7 |doi=10.1086/316955]

References

External links

* [http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=931 Overview] at Orphanet
* [http://ctd.mdibl.org/detail.go?type=disease&db=OMIM&acc=200500 CTD's Acheiropodia page] from the Comparative Toxicogenomics Database
* http://acronyms.thefreedictionary.com/acheiropody
* [http://www.pubmedcentral.nih.gov/picrender.fcgi?artid=1378047&blobtype=pdf PDF of Am. J. of Human Genetics article]