National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Naegeli syndrome


Other Names:
Naegeli-Franceschetti-Jadassohn syndrome; NFJ syndrome; Reticular skin changes, dental anomalies, decreased function of sweat glands, strabismus, and optic atrophy; Naegeli-Franceschetti-Jadassohn syndrome; NFJ syndrome; Reticular skin changes, dental anomalies, decreased function of sweat glands, strabismus, and optic atrophy; NFJS See More
Categories:
This disease is grouped under:
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. While there is no cure for Naegeli syndrome, treatment is based on each individual's symptoms.[1][2][3]
Last updated: 10/14/2016

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormality of dental enamel
Abnormal tooth enamel
Enamel abnormalities
Enamel abnormality
[ more ] 		0000682
Adermatoglyphia 0007455
Diffuse palmoplantar keratoderma 0007435
Dystrophic fingernails
Poor fingernail formation
0008391
Dystrophic toenail
Poor toenail formation
0001810
Ectodermal dysplasia 0000968
Reticular hyperpigmentation 0007588
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance 0000006
Carious teeth
Dental cavities
Tooth cavities
Tooth decay
[ more ] 		0000670
Fragile nails
Brittle nails
0001808
Heat intolerance
Intolerance to heat and fevers
0002046
Hypohidrosis
Decreased ability to sweat
Decreased sweating
Sweating, decreased
[ more ] 		0000966
Palmoplantar keratoderma
Thickening of palms and soles
0000982
Premature loss of teeth
Early tooth loss
Loss of teeth
Premature teeth loss
Premature tooth loss
[ more ] 		0006480
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Last updated: 7/1/2020
In most cases of Naegeli syndrome, a diagnosis is made based on the typical clinical features of this condition.[1] The diagnosis may be confirmed by genetic testing of the KRT14 gene. 
Last updated: 10/14/2016

Testing Resources

  • 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.
Treatment for Naegeli syndrome is based on an individual's symptoms. Dry skin can be moisturized with creams. Exposure to heat should be limited. To avoid overheating, affected individuals should stay hydrated, wear appropriate clothing, and use wet dressings. Dental care is needed to treat cavities and tooth loss.[1][3]
Last updated: 10/14/2016

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include incontinentia pigmenti, dermatopathia pigmentosa reticularis, dyskeratosis congenita, pachyonychia congenita and Dowling-Degos disease (see these terms).
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition. 

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

In-Depth Information

  • 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.

Selected Full-Text Journal Articles

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new 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? See answer


  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 10/14/2016.
  2. Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis. Genetics Home Reference. May 2013; https://ghr.nlm.nih.gov/condition/naegeli-franceschetti-jadassohn-syndrome-dermatopathia-pigmentosa-reticularis#genes. Accessed 10/14/2016.
  3. Clifford, RH.. Naegeli-Franceschetti-Jadassohn Syndrome. Medscape. June 3, 2014; http://emedicine.medscape.com/article/1117926-overview. Accessed 10/14/2016.