nail disorder—non-syndromic congenital—4

Home » Classic Medicine » Dermatology » nail disorder—non-syndromic congenital—4
nail disorder—non-syndromic congenital—42016-11-27T13:18:26+00:00

nail disorder—non-syndromic congenital—4

DERMATOLOGY

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

Reference http://www.uniprot.org/uniprot/Q2I0M5

http://www.omim.org/entry/206800

Leave A Comment

This site uses Akismet to reduce spam. Learn how your comment data is processed.