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Anonychia congenita
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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]
References
- Congenital anonychia. Orphanet. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79143. Accessed November 4, 2011.
- Nail disorder, nonsyndromic congenital, 4: NDNC4. Online Mendelian Inheritance of Man (OMIM). http://omim.org/entry/206800. Accessed November 4, 2011.
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General Information
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- 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.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Anonychia congenita. Click on the link to go to OMIM and review these resources.