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Diseases

Genetic and Rare Diseases Information Center (GARD)

Anonychia congenita


Other Names for this Disease
  • Hyponychia congenita
  • Anonychia
Related Diseases
  • Isolated congenital anonychia
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Overview

Anonychia congenita is an extremely rare nail disorder characterized by the complete absence (anonychia) or abnormally developed  fingernails and toenails. Affected individuals usually do not have hair, teeth, or bone abnormalities. Signs and symptoms are variable, even among affected members of the same family. Less than 20 individuals with anonychia congenita have been identified. This condition is thought to be caused by mutations in the RSPO4 gene and inherited in an autosomal recessive fashion.[1][2]
Last updated: 9/27/2012

References

  1. Congenital anonychia. Orphanet. May 2007; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79143. Accessed 11/4/2011.
  2. Nail disorder, nonsyndromic congenital, 4: NDNC4. Online Mendelian Inheritance of Man (OMIM). August 2011; http://omim.org/entry/206800. Accessed 11/4/2011.
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In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Anonychia congenita. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Hyponychia congenita
  • Anonychia
Related Diseases
  • Isolated congenital anonychia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.