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Digital extensor muscle aplasia-polyneuropathy

Disease definition

Digital extensor muscle aplasia-polyneuropathy is a rare, hereditary motor and sensory neuropathy characterized by flexion deformities of the thumb and fingers, sensory deficit in the hand and polyneuropathic electrophysiologic findings in the limbs. Operation on the hands reveals extensor muscles and their tendons to be absent or hypoplastic. There have been no further descriptions in the literature since 1986.

ORPHA:2926

  • Synonym(s):
    • Congenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathy
    • Hamanishi-Ueba-Tsuji syndrome
    • Polyneuropathy-hand defect syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Neonatal
  • ICD-10: Q87.8
  • OMIM: 207740
  • UMLS: C2930955
  • MeSH: -
  • GARD: 2589
  • MedDRA: -

Additional information

Further information on this disease

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