Conditions / Syndrome
Naegeli-Franceschetti-Jadassohn syndrome
info · Syndrome
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
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.
Signs and symptoms
- Carious teeth
- Fragile nails
- Premature loss of teeth
- Heat intolerance
- Adermatoglyphia
- Hypohidrosis
- Reticular hyperpigmentation
- Palmoplantar keratoderma
Also known as: NFJ syndrome; Naegeli syndrome