Acheiropodia

[MIM 200 500]

Prevalence < 1.106. A few cases have been described in Brazil. Autosomal recessive transmission of mutations in the 'homologous limb region 1', LMBR1 gene (7q36). Congenital amputation of feet and hands. Typically the anomaly consists of the amputation of the distal epiphyses of the humerus, tibial diaphyses, and the absence of radius, ulna, fibula, and all the bones of the hands and feet. 


Anesthetic implications 

difficult peripheral venous access


References:


Updated: October 2018