Naegeli-Franceschetti-Jadassohn syndrome
Findings
No curated finding names Naegeli-Franceschetti-Jadassohn syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Naegeli-Franceschetti-Jadassohn (NFJ) syndrome is a rare ectodermal dysplasia that affects the skin, sweat glands, nails, and teeth.
Definition from the Mondo Disease Ontology (MONDO:0008059), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
32 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AdermatoglyphiaHPOHP:0007455
- Very frequent (80% to 99% of cases)
- Reticulated skin pigmentationHPOHP:0007427
- Very frequent (80% to 99% of cases)
- Abnormal dental morphologyHPOHP:0006482
- Frequent (30% to 79% of cases)
- Abnormality of the dentitionHPOHP:0000164
- Frequent (30% to 79% of cases)
- Decreased number of sweat glandsHPOHP:0007500
- Frequent (30% to 79% of cases)
- Dry skinHPOHP:0000958
- Frequent (30% to 79% of cases)
- Fragile nails
Show the remaining 20
- Acral blisteringHPOHP:0031045
- Occasional (5% to 29% of cases)
- AnhidrosisHPOHP:0000970
- Occasional (5% to 29% of cases)
- Carious teethHPOHP:0000670
- Occasional (5% to 29% of cases)
- Dystrophic toenailHPOHP:0001810
- Occasional (5% to 29% of cases)
- Enamel hypoplasiaHPOHP:0006297
- Occasional (5% to 29% of cases)
- Flexion contracture of fingerHPOHP:0012785
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- KRT14HGNC:6416
- Definitive · G2P · Autosomal dominant · 2019
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Ambry Genetics · Autosomal dominant · 2020
Where it sits
Other names
2 names
Resolves to: Naegeli-Franceschetti-Jadassohn syndrome
- Also called
- Naegeli syndromeNFJ syndrome