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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.
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.
- The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Naegeli syndrome. Click on the link to go to OMIM and review these resources.
- 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
- 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.