Naegeli syndrome

Disease Overview

Naegeli syndrome belongs to a group of disorders known as ectodermal dysplasias. This condition is characterized by absent fingerprints, thickening of the palms and soles (palmoplantar keratoderma), decreased sweating (hypohidrosis), heat intolerance, patches of darker (hyperpigmented) skin, brittle nails, abnormally colored teeth, and early tooth loss. Naegeli syndrome is caused by mutations in the KRT14 gene and inherited in an autosomal dominant manner. While there is no cure for Naegeli syndrome, treatment is based on each individual’s symptoms.[1385][12376][12377]

Synonyms

• Naegeli-Franceschetti-Jadassohn syndrome
• NFJ syndrome
• Reticular skin changes, dental anomalies, decreased function of sweat glands, strabismus, and optic atrophy
• NFJS