Naegeli-Franceschetti-Jadassohn syndrome

Term ID

DOID:0111528

Synonyms

• Naegeli syndrome
• NFJ syndrome

Definition

A ectodermal dysplasia characterized by reticulate hyperpigmentation that made fade with age, palmoplantar keratoderma, absence of dermatoglyphics, abnormal sweat function and dental anomalies that has_material_basis_in heterozygous mutation in the KRT14 gene on chromosome 17q21.2. (2)

References

• GARD:3912
• MESH:C538331
• OMIM:161000
• ORDO:69087
• SNOMEDCT_US_2023_03_01:239084001
• UMLS_CUI:C0343111

Ontology

Human Disease   ( DOID:0111528 )