Other Names for this Disease
- Naegeli-Franceschetti-Jadassohn syndrome
- NFJ syndrome
- Reticular skin changes, dental anomalies, decreased function of sweat glands, strabismus, and optic atrophy
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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.Naegeli syndrome belongs to a group of disorders known as
Last updated: 7/14/2009
- 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.
- Genetics Home Reference (GHR) contains information on Naegeli syndrome. This website is maintained by the National Library of Medicine.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- 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 Naegeli syndrome. Click on the link to view a sample search on this topic.
- Lugassy J., et.al., Naegeli-Franceschetti-Jadassohn Syndrome and Dermatopathia Pigmentosa Reticularis: Two Allelic Ectodermal Dysplasias Caused by Dominant Mutations in KRT14, Am J Hum Genet. 2006 October; 79(4): 724–730.