General Information of Disease (ID: DISX4BM4)

Disease Name Isolated congenital anonychia
Synonyms congenital anonychia; autosomal recessive nonsyndromic congenital nail disorder-4; nonsyndromic congenital nail disorder, 4; isolated anonychia
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.
Disease Hierarchy
DISNN50H: Inherited isolated nail anomaly
DISX4BM4: Isolated congenital anonychia