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Acheiropodia

ORPHA931
Synonym(s) Acheiropody
Toes absent
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Neonatal
Antenatal
ICD-10
  • Q74.8
OMIM
UMLS
  • C0265559
MeSH
  • C536014
MedDRA -

Summary

Acheiropodia is an extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance.


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