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Naegeli-Franceschetti-Jadassohn syndrome

Synonyms
NFJ syndrome; Naegeli syndrome; Reticular skin changes, dental anomalies, decreased function of sweat glands, strabismus, and optic atrophy
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Naegeli-Franceschetti-Jadassohn syndrome (NFJS) is a rare autosomal dominant disorder of skin, hair, and teeth. It is characterized by complete absence of dermatoglyphics (fingerprint lines), a reticulate pattern of skin hyperpigmentation that tends to disappear with age, thickening of the palms and soles (palmoplantar keratoderma), and decreased sweating. Dental anomalies including enamel defects, skin blistering, and nail dystrophy have been reported in some patients. It can be distinguished from dermatopathia pigmentosa reticularis (DPR) by the latter's features of lifelong persistence of the skin hyperpigmentation, partial alopecia, and absence of dental anomalies (summary by Lugassy et al., 2006). [from OMIM]

Available tests

19 tests are in the database for this condition.

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Clinical tests (19 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CK14, EBS1, EBS1A, EBS1B, EBS1C, EBS1D, EBS3, EBS4, K14, NFJ, KRT14
    Summary: keratin 14

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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