Naegeli-Franceschetti-Jadassohn syndrome

disorder

SNOMED 239084001CUI C0343111

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Adermatoglyphia

Very frequent (80-99%)HP:0007455

Reticulated skin pigmentation

Very frequent (80-99%)HP:0007427

Decreased sweat pores

Frequent (30-79%)HP:0007500

Decreased sweating

Frequent (30-79%)HP:0000966

Dystrophic nails

Frequent (30-79%)HP:0008404

Fragile nails

Frequent (30-79%)HP:0001808

Intolerance to heat and fevers

Frequent (30-79%)HP:0002046

Malalignment of the great toenail

Frequent (30-79%)HP:0031282

Misshapened teeth

Frequent (30-79%)HP:0006482

Thickened, discoloured skin under nail

Frequent (30-79%)HP:0008392

Tooth abnormalities

Frequent (30-79%)HP:0000164

Xerosis

Frequent (30-79%)HP:0000958

Acral blistering

Occasional (5-29%)HP:0031045

Defective enamel matrix

Occasional (5-29%)HP:0006297

Dystrophic toenails

Occasional (5-29%)HP:0001810

Flexion deformity of finger

Occasional (5-29%)HP:0012785

Generalized reticulate brown pigmentation

Occasional (5-29%)HP:0007599

Hyperpigmentation in sun-exposed areas

Occasional (5-29%)HP:0005586

Hypopigmentation of the skin

Occasional (5-29%)HP:0001010

Increased tooth count

Occasional (5-29%)HP:0011069

Interphalangeal joint flexion contractures

Occasional (5-29%)HP:0001220

Loss of teeth

Occasional (5-29%)HP:0006480

Milia

Occasional (5-29%)HP:0001056

Oncholysis

Occasional (5-29%)HP:0001806

Palmoplantar keratosis

Occasional (5-29%)HP:0000972

Punctate palmoplantar hyperkeratosis

Occasional (5-29%)HP:0007530

Rotting teeth

Occasional (5-29%)HP:0000670

Sweating dysfunction

Occasional (5-29%)HP:0000970

Swelling of innermost hinge joints

Occasional (5-29%)HP:0006253

Yellow-brown discolored teeth

Occasional (5-29%)HP:0006286

Related Conditions

Inherited cutaneous hyperpigmentation(parent)

Quick Facts

SNOMED CT: 239084001
UMLS CUI: C0343111
Fully Specified Name: Naegeli-Franceschetti-Jadassohn syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.