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anonychia congenita
Etiology:
- congenital ectodermal disorder
Epidemiology:
- rare
- < 20 cases identified [1] (2014)
Genetics:
- autosomal recessive
- associatedw tih mutations in the RSPO4 gene
Clinical manifestations:
- complete absence (anonychia) or abnormally developed fingernails & toenails
- associated hair, teeth, or bone abnormalities are not common
- manifestations are variable
General
anonychia
congenital anomaly (birth defect)
genetic disease of the skin (genodermatosis)
References
- Anonychia congenita
Genetic and Rare Diseases Information Center (GARD)
http://rarediseases.info.nih.gov/gard/10048/anonychia-congenita/resources/1