Bilateral congenital amputations of the upper and lower extremities and aplasia of the hands and feet.
Handless-Footless Families of Brazil; Acheiropody; ACHP Syndrome.
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.
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.
Other than difficult vascular access (central venous access should be normal, though), anesthetic management is expected to be normal.
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).
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et al: A minimalist approach to gene mapping: Locating the gene for acheiropodia, by homozygosity analysis. Am J Hum Genet
et al: Genetics of acheiropodia (the handless and footless families of Brazil). VI. Formal genetic analysis. Am J Hum Genet
P, van Baren
et al: Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene. Am J Hum Genet
A: Acheiropodia: New cases from Brazil. Clin Genet...