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Acheiropody
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Overview
Acheiropody is a very rare condition characterized by bilateral, congenital amputations of the hands and feet. Individuals with this condition are born with complete amputation of the distal humeral epiphysis (end of the upper arm bone) and tibial diaphysis (mid-section of the shin bone), and aplasia (lack of development) of the radius, ulna, fibula, and of all the bones of the hands and feet. The condition appears to affect only the extremities, with no other signs and symptoms reported.[1] It is caused by a defect in the LMBR1 gene and is inherited in an autosomal recessive manner.[2] Walking may be possible for individuals with acheiropody with well-fitted prostheses.[3] With the exception of a couple of affected individuals in Puerto Rico, all other reported cases have occurred in Brazil.[1]
References
- P. Ianakiev et al. Acheiropodia Is Caused by a Genomic Deletion in C7orf2, the Human Orthologue of the Lmbr1 Gene. American Journal of Human Genetics. January 2001. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1234933/?tool=pubmed. Accessed January 31, 2011.
- LMBR1. Genetics Home Reference. http://ghr.nlm.nih.gov/gene/LMBR1. Accessed January 31, 2011.
- Acheiropodia. Orphanet. http://www.orpha.net/consor/cgi-bin/Disease_Search_Simple.php?lng=EN. Accessed January 31, 2011.
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On this page
General Information
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Acheiropody. Click on the link to view a sample search on this topic.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Acheiropody. Click on the link to go to OMIM and review these resources.