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Anonychia congenita MeSH Supplementary Concept Data 2023


MeSH Supplementary
Anonychia congenita
Unique ID
C536377
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C536377
Entry Term(s)
Anonychia
Hyponychia congenita
Registry Number
0
Heading Mapped to
Nails, Malformed / *congenital
Frequency
27
Note
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 of Entry
2010/11/13
Revision Date
2016/09/29
Anonychia congenita Preferred
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