Features include: Carious teeth, Fragile nails, Premature loss of teeth, and Heat intolerance and 4 more.

KRT14 encodes keratin 14 (472 aa). The nonhelical tail domain is involved in promoting KRT5-KRT14 filaments to self-organize into large bundles and enhances the mechanical properties involved in resilience of keratin intermediate filam... Highest expression in Skin Not Sun Exposed Suprapubic (8,477 TPM) and Skin Sun Exposed Lower leg (7,304 TPM).

Naegeli-Franceschetti-Jadassohn syndrome is associated with mutations in the KRT14 gene on chromosome 17.

The KRT14 protein participates in Mammary myoepithelial progenitor cell produces mature myoepithelial cell, Transit-amplifying cell of basal layer differentiates into keratinocyte of spinosum layer in interfollicular epidermis, and Mammary stem cell produces myoepithelial/basal progenitor pathways.

KRT14 is classified as a druggable target with score 0.0.

Genetic testing for KRT14 is available. Testing is considered confirmatory for diagnosis.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for Naegeli-Franceschetti-Jadassohn syndrome.

3 publications have been identified in PubMed for Naegeli-Franceschetti-Jadassohn syndrome. Research spans Review / Meta-Analysis (67%) and Case Report / Case Series (33%).

Recent Publications

• Jangili B (2025). [PMID: 40469827](https://pubmed.ncbi.nlm.nih.gov/40469827/). *Int J Clin Pediatr Dent*. [Case Report / Case Series]

• Shah HH (2025). [PMID: 40093016](https://pubmed.ncbi.nlm.nih.gov/40093016/). *Front Med (Lausanne)*. [Review / Meta-Analysis]

• Mohapatra L (2024). [PMID: 39139099](https://pubmed.ncbi.nlm.nih.gov/39139099/). *Clin Exp Dermatol*. [Review / Meta-Analysis]