Anonychia congenita [Supplementary Concept]
The absence of fingernails and toenails (anonychia) and its milder phenotypic variant (hyponychia), are usually associated with other skeletal and limb abnormalities in genetic syndromes. Isolated nonsyndromic cases are less common and may show autosomal recessive inheritance and variable expression within a given family. The nail phenotypes can vary from no nail field to a nail field of reduced size with an absent or rudimentary nail. Nonsyndromic cases are associated with mutations in the R-spondin 4 (RSPO4) gene. OMIM: 610573
Date introduced: November 13, 2010
MeSH Unique ID: C536377
Heading Mapped to:
Entry Terms:
- Hyponychia congenita
- Anonychia