nail disorder—non-syndromic congenital—4

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nail disorder—non-syndromic congenital—42016-11-27T13:18:26+00:00

nail disorder—non-syndromic congenital—4


Definition A nail disorder (OMIM:206800) characterised by congenital anonychia* or its milder phenotypic variant, hyponychia.

*Absence or severe hypoplasia of all fingernails and toenails without significant bone anomalies.

Molecular pathology Defects of RSPO4, which encodes a protein that may be involved in activating Wnt/beta-catenin signaling pathways, cause nail disorder—non-syndromic congenital—type 4. 

Synonyms Anonychia congenita, anonychia totalis


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