Izolowany wrodzony brak paznokci

Kod Orpha: 79143Kod OMIM: 614149

Definicja

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.

Dane
Klasyfikacja

Choroba

Synonimy
Isolated anonychia
Izolowana anonychia
Kod ORPHA
79143
Kod OMIM
614149
Kod ICD10
Q84.3
Kod ICD11
EC22.0

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