Acheiropodia
163428
207839935
2008-04-24T12:19:08Z
Mai-tai-guy
6957758
{{Unreferenced|date=March 2008}}
{{Infobox_Disease
| Name = Acheiropodia
| Image =
| Caption =
| DiseasesDB = 32738
| ICD10 =
| ICD9 =
| ICDO =
| OMIM = 200500
| MedlinePlus =
| eMedicineSubj =
| eMedicineTopic =
| MeshID =
}}
'''Acheiropodia''', also known as '''Horn Kolb Syndrome''', '''Acheiropody''' and '''Aleijadinhos (Brazilian type)''', is an [[autosomal recessive]] disease that results in hemimelia, a lack of formation of the distal extremities. This is a [[congenital defect]] which consists of bilateral [[amputation]]s of the distal upper and lower extremities, as well as [[aplasia]] of the [[hand]]s and [[foot|feet]]. It is found almost exclusively in [[Brazil]].{{Fact|date=March 2008}}
[[Image:autorecessive.svg|thumb|left|{{PAGENAME}} has an autosomal recessive pattern of [[inheritance]].]]
==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]
{{Congenital malformations and deformations of musculoskeletal system}}
[[Category:Congenital disorders]]
[[Category:Genetic disorders]]
[[Category:Autosomal recessive disorders]]
[[Category:Rare diseases]]
{{genetic-disorder-stub}}
[[pl:Acheiropodia]]