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Genetic and Rare Diseases Information Center (GARD)

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Acheiropody


Other Names for this Disease

  • Acheiropodia
  • Acheiropody, Brazilian type
  • ACHP
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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]
Last updated: 1/31/2011

References

  1. 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; 68(1):38-45. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1234933/?tool=pubmed. Accessed 1/31/2011.
  2. LMBR1. Genetics Home Reference. January 23, 2011; http://ghr.nlm.nih.gov/gene/LMBR1. Accessed 1/31/2011.
  3. Acheiropodia. Orphanet. February 2005; http://www.orpha.net/consor/cgi-bin/Disease_Search_Simple.php?lng=EN. Accessed 1/31/2011.
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In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • 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.
Other Names for this Disease
  • Acheiropodia
  • Acheiropody, Brazilian type
  • ACHP
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.