Naegeli-Franceschetti-Jadassohn syndrome
ORPHA:69087· ICD-10 Q82.4
Definition
A rare ectodermal dysplasia characterized by adermatoglyphia (absence of fingerprints), reticular cutaneous hyperpigmentation, hypohidrosis, nail dystrophy, tooth enamel defects, and moderate hyperkeratosis of the palms and soles.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal