Anonychia congenita

Definition:

Nonsyndromic anonychia is a condition in which the nails of the fingers and toes are congenitally absent without significant bone anomalies. The teeth and hair are normal. Mutation in RSPO4, a Wnt-signaling component, has been identified.

References:

[1]. A LITTMAN, et al. ANONYCHIA AS A RECESSIVE AUTOSOMAL TRAIT IN MAN. J Invest Dermatol. 1964 Feb;42:177-8. [Content Brief]

[2]. C Bergmann, et al. Mutations in the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychia. Am J Hum Genet. 2006 Dec;79(6):1105-9. [Content Brief]

[3]. Khalid Al Hawsawi, et al. Anonychia congenita totalis: a case report and review of the literature. Int J Dermatol. 2002 Jul;41(7):397-9. [Content Brief]

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