OrphanDrug
OrphanDrug
Pharma Knowledge Base

Naegeli–Franceschetti–Jadassohn syndrome

MeSH: C538331ORPHA: 69087

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

Overview

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

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with Naegeli–Franceschetti–Jadassohn syndrome, sourced from HPO and Orphanet clinical annotations.

Reticulated skin pigmentationAdermatoglyphiaAbnormality of the dentitionDry skinHypohidrosisFragile nailsHeat intoleranceAbnormal dental morphologyDecreased number of sweat glandsSubungual hyperkeratosisNail dystrophyMalalignment of the great toenailCarious teethAnhidrosisPalmoplantar hyperkeratosisHypopigmentation of the skinMiliaInterphalangeal joint contracture of fingerOnycholysisDystrophic toenailHyperpigmentation in sun-exposed areasSwelling of proximal interphalangeal jointsYellow-brown discoloration of the teethEnamel hypoplasiaPremature loss of teethPunctate palmoplantar hyperkeratosisGeneralized reticulate brown pigmentationSupernumerary toothFlexion contracture of fingerAcral blistering

Classification & Codes

MeSH Code

C538331

Orphanet Code

ORPHA:69087
Naegeli–Franceschetti–Jadassohn syndrome
MeSHC538331
OrphanetORPHA:69087
Treatments0 drug(s)
Symptoms on record30 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO