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Diseases

Genetic and Rare Diseases Information Center (GARD)

Naegeli syndrome


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
  • NFJS
Related Diseases
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Tests & Diagnosis

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How is Naegeli syndrome diagnosed?

In most cases of Naegeli syndrome, a diagnosis is made based on the typical clinical features of this condition.[1] The clinical diagnosis may be confirmed by genetic testing of the KRT14 geneGeneTests lists a laboratory that performs genetic testing of the KRT14 gene. If you are interested in genetic testing for this condition, we recommend that you consult with a genetics professional.
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.


Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
  • Orphanet lists international laboratories offering diagnostic testing for this condition.
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
  • NFJS
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.