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Diseases

Genetic and Rare Diseases Information Center (GARD)

Other Names for this Disease
  • Acheiropodia
  • Acheiropody, Brazilian type
  • ACHP
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Overview



What is acheiropody?

How is acheiropody inherited?


What is acheiropody?

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

How is acheiropody inherited?

Acheiropody is inherited in an autosomal recessive manner. This means that an individual with the condition has two changed (mutated) copies of the gene that causes the condition in each cell. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they usually do not show signs and symptoms of the condition; they are referred to as "carriers." When two people who are carriers of an autosomal recessive condition have a child, there is a 25% (1 in 4) chance that the child will have the condition, a 50% (1 in 2) chance that the child will be a carrier like each of the parents, and a 25% chance that the child will not have the condition and not be a carrier.
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.