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At a glance

Bilateral congenital amputations of the upper and lower extremities and aplasia of the hands and feet.


Handless-Footless Families of Brazil; Acheiropody; ACHP Syndrome.

Incidence/genetic inheritance

Approximately 10 families have been described with this disease. It is inherited as an autosomal recessive trait with consanguinity being present in over 80% of parents. Heterozygous individuals are phenotypically normal. Acheiropodia has been mapped to chromosome 7q36 and is caused by a mutation in the homolog of the mouse limb region 1 (Lmbr1) gene. Most patients are from Brazil, although a few cases have also been reported in Puerto Rico.

Clinical aspects

Bilateral congenital amputations of the upper and lower extremities with aplasia of the hands and feet. In contrast to other hemimelias, here the upper extremity shows complete amputation of the distal humerus epiphysis, aplasia of the radius and ulna, the carpal, metacarpal, and phalangeal bones. In the lower extremity, the defect is characterized by amputation of the distal part of the tibial diaphysis, aplasia of the fibula, tarsal, metatarsal, and phalangeal bones. In some patients the pathognomonic Bogomoletz bone can be found, a small, elongated bone fragment in the distal tip of the upper limb remnant, aligned with the axis of the humerus, resembling a small finger-like appendage.

Precautions before anesthesia

Routine preoperative assessment.

Anesthetic considerations

Other than difficult vascular access (central venous access should be normal, though), anesthetic management is expected to be normal.

Pharmacological implications

There are no known pharmacological implications.

Other conditions to be considered

Although clinically different, the genes for ☞Sandrow Syndrome, for Hypoplastic, Aplastic Tibia, Polydactyly Syndrome, for Preaxial (radial) polydactyly Type II, and for Triphalangeal thumbs have all been mapped to the same region on chromosome 7 (7q36, Limbr1).


Duboule  D: The vertebrate limb: A model system to study the Hox/HOM gene network during development and evolution. Bio Essays 14:375–384, 1992.
Escamilla  MA, DeMille  MC, Benavides  E,  et al: A minimalist approach to gene mapping: Locating the gene for acheiropodia, by homozygosity analysis. Am J Hum Genet 66:1995–2000, 2000.  [PubMed: 10780921]
Freire-Maia  A, Freire-Maia  N, Morton,  NE,  et al: Genetics of acheiropodia (the handless and footless families of Brazil). VI. Formal genetic analysis. Am J Hum Genet 27:521–527, 1975.  [PubMed: 1155460]
Ianakiev  P, van Baren  MJ, Daly  MJ,  et al: Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene. Am J Hum Genet 68:38–45, 2001.  [PubMed: 11090342]
Silveira  EL, Freire-Maia  A: Acheiropodia: New cases from Brazil. Clin Genet...

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