Naegeli-franceschetti-jadassohn Syndrome

Description

Naegeli-Franceschetti-Jadassohn (NFJ) syndrome is a rare ectodermal dysplasia that affects the skin, sweat glands, nails, and teeth.

Clinical Features

Top most frequent phenotypes and symptoms related to Naegeli-franceschetti-jadassohn Syndrome

  • Hyperhidrosis
  • Hyperkeratosis
  • Carious teeth
  • Palmoplantar keratoderma
  • Ectodermal dysplasia
  • Hypohidrosis
  • Hyperpigmentation of the skin
  • Abnormality of dental enamel
  • Palmoplantar hyperkeratosis
  • Premature loss of teeth

And another 7 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available NAEGELI-FRANCESCHETTI-JADASSOHN SYNDROME have a estimated prevalence of 0.035 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Naegeli-franceschetti-jadassohn Syndrome Is also known as nfj syndrome, naegeli syndrome.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Naegeli-franceschetti-jadassohn Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
EBSeq Epidermolysis Bullosa Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

DST, TGM5, FERMT1, CHST8, CD151, CDSN, COL17A1, COL7A1, KLHL24, DSP, EXPH5, ITGA3, ITGA6, ITGB4, JUP, KRT14, KRT5, LAMA3, LAMB3, LAMC2 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
KRT14 Gene Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

KRT14
Specificity
100 %
Genes
100 %
KRT14.

By Institute for Human Genetics University Clinic Freiburg (Germany).

KRT14
Specificity
100 %
Genes
100 %
KRT14. Sequencing of the exons 1, 4 and 6.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

KRT14
Specificity
100 %
Genes
100 %
KRT14. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

KRT14
Specificity
100 %
Genes
100 %
KRT14. Sequencing of the exons 1, 4 and 6.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

KRT14
Specificity
100 %
Genes
100 %
KRT14. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

KRT14
Specificity
100 %
Genes
100 %
Epidermolysis bullosa simplex (sequence analysis of KRT14 gene).

By CGC Genetics (Portugal).

KRT14
Specificity
100 %
Genes
100 %

We have 31 more panels available in our App

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Sources and references

You can check the following sources for additional information.

MESH ORPHANET OMIM Genetic Syndrome Finder

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