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Diseases

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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Your Question

I am 58-years-old, and in the last year I have lost my fingerprints. When researching why this may have happened, I came across Naegeli syndrome and discovered that there were more symptoms that matched mine.Could you tell me how this condition is diagnosed? Is there a way to cure or halt the symptoms of the syndrome?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is Naegeli syndrome?

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

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

Is there a treatment for Naegeli syndrome?

Treatment for Naegeli syndrome is based on an individual's symptoms. Dry skin can be moisturized with creams. To avoid overheating, affected individuals should wear appropriate clothing and use wet dressings. Dental care is needed treat cavities and tooth loss.[1]
Last updated: 7/14/2009

References