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Genetic and Rare Diseases Information Center (GARD)

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Naegeli syndrome


Other Names for this Disease

  • Naegeli-Franceschetti-Jadassohn syndrome
  • NFJ syndrome
  • NFJS
  • Reticular skin changes, dental anomalies, decreased function of sweat glands, strabismus, and optic atrophy
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Overview

Naegeli syndrome belongs to a group of disorders known as ectodermal dysplasias. This condition is characterized by absent fingerprints, thickening of the palms and soles (palmoplantar keratoderma), decreased sweating (hypohidrosis), heat intolerance, patches of darker (hyperpigmented) skin, brittle nails, abnormally colored teeth, and early tooth loss. Naegeli syndrome is caused by mutations in the KRT14 gene and inherited in an autosomal dominant manner. Treatment is based on an individual's symptoms.[1]
Last updated: 7/14/2009

References

  1. Itin P. Naegeli-Franceschetti-Jadassohn syndrome. Orphanet. January 2009; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=69087. Accessed 7/14/2009.
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Basic Information

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • 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 Naegeli syndrome. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles

Other Names for this Disease
  • Naegeli-Franceschetti-Jadassohn syndrome
  • NFJ syndrome
  • NFJS
  • Reticular skin changes, dental anomalies, decreased function of sweat glands, strabismus, and optic atrophy
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.