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Isolated congenital anonychia

Disease definition

Isolated congenital anonychia is characterized by nail abnormalities ranging from onychodystrophy (dystrophic nails) to anonychia (absence of nails). Onychodystrophy-anonychia has been described in at least four generations of a family with male-to-male transmission, suggesting autosomal dominant transmission. Anonychia has been described in approximately less than 20 cases; it is likely to be transmitted as an autosomal recessive trait. Total anonychia congenita, in which all the fingernails and toenails are absent, may have an autosomal dominant inheritance pattern.

ORPHA:79143

  • Synonym(s):
    • Isolated anonychia
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: -
  • ICD-10: Q84.3
  • OMIM: 107000  206800  614149
  • UMLS: -
  • MeSH: -
  • GARD: 10048
  • MedDRA: -

Additional information

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