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Acheiropodia

Orpha number ORPHA931
Prevalence of rare diseases <1 / 1 000 000
Inheritance
  • Autosomal recessive
Age of onset Neonatal/infancy
ICD 10 code
  • Q71.3
  • Q72.3
MIM number
Synonym(s) Acheiropody

Summary

Acheiropody is a very rare condition characterized by bilateral congenital amputations of the hands and feet. The specific malformative phenotype consists of a complete amputation of the distal epiphysis of the humerus, amputation of the tibial diaphysis, and aplasia of the radius, ulna, fibula, and of all the bones of the hands and feet. This syndrome of autosomal recessive inheritance has only been observed in Brazil so far. The acheiropodia gene is located in the 7q36 chromosomic region. Functional adaptation of these patients is good and walking is possible with well-fitted prostheses. *Author: Orphanet (February 2005)*.

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