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Acheiropodia

Orpha number ORPHA931
Synonym(s) Acheiropody
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal recessive
Age of onset Neonatal/infancy
ICD-10
  • Q74.8
OMIM
UMLS
  • C0265559
MeSH
  • C536014
MedDRA -
SNOMED CT
  • 177504007

Summary

Acheiropodia 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. Acheiropodia is caused by mutations in the `limb region 1 homolog' gene, LMBR1 (7q36). Functional adaptation of these patients is good and walking is possible with well-fitted prostheses.


Last update: February 2005

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