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.
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.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 % |
You can get up to 31 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
MESH ORPHANET OMIM Genetic Syndrome FinderIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB HEMOGLOBIN, HIGH ALTITUDE ADAPTATION; HALAH