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