{"orpha":69087,"name":"Naegeli-Franceschetti-Jadassohn syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["NFJ syndrome","Naegeli syndrome"],"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.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-69087/","orphanet_url":"https://www.orpha.net/en/disease/detail/69087","names":{"fr":{"name":"Syndrome de Naegeli-Franceschetti-Jadassohn","synonyms":["Syndrome NFJ","Syndrome de Naegeli"],"definition":"Dysplasie ectodermique rare caractérisée par une adermatoglyphie (absence d'empreintes digitales), une hyperpigmentation cutanée réticulaire, une hypohidrose, une dystrophie des ongles, des anomalies de l'émail dentaire et une hyperkératose modérée des paumes et de la plante des pieds."},"de":{"name":"Naegeli-Franceschetti-Jadassohn-Syndrom","synonyms":["NFJ-Syndrom","Naegeli-Syndrom"],"definition":"Eine seltene ektodermale Dysplasie, die durch Adermatoglyphie (Fehlen von Fingerabdrücken), retikuläre Hauthyperpigmentierung, Hypohidrose, Nageldystrophie, Zahnschmelzdefekte und mäßige Hyperkeratose der Handflächen und Fußsohlen gekennzeichnet ist."},"es":{"name":"Síndrome de Naegeli-Franceschetti-Jadassohn","synonyms":["Síndrome de NFJ","Síndrome de Naegeli"],"definition":"Es una displasia ectodérmica poco frecuente caracterizada por adermatoglifia (ausencia de huellas dactilares), hiperpigmentación cutánea reticulada, hipohidrosis, distrofia ungueal, defectos del esmalte dental e hiperqueratosis moderada de las palmas de las manos y de las plantas de los pies."},"it":{"name":"Sindrome di Naegeli-Franceschetti-Jadassohn","synonyms":["Sindrome NFJ","Sindrome di Naegeli"]},"nl":{"name":"Syndroom van Naegeli-Franceschetti-Jadassohn","synonyms":["NFJ-syndroom","Syndroom van Naegeli"],"definition":"Een zeldzame ectodermale dysplasie, gekenmerkt door adermatoglyfie (afwezigheid van vingerafdrukken), reticulaire cutane hyperpigmentatie, hypohidrose, nageldystrofie, defecten van tandglazuur, en matige hyperkeratose van handpalmen en voetzolen."},"pt":{"name":"Síndrome de Naegeli-Franceschetti-Jadassohn","synonyms":["Síndrome NFJ","Síndrome de Naegeli"],"definition":"O síndrome de Naegeli-Franceschetti-Jadassohn (NFJ) é uma displasia ectodérmica rara que afecta a pele, glândulas sudoríparas, unhas e dentes."},"pl":{"name":"Zespół Naegeliego, Franceschettiego i Jadassohna","synonyms":["Zespół Naegeliego","Zespół NFJ"]},"cs":{"name":"Naegeliho-Franceschettiho-Jadassohnův syndrom","synonyms":["NFJ syndrom","Naegeliho syndrom","Naegeli-Franceschetti-Jadassohnův syndrom"]},"uk":{"name":"Синдром Негелі-Франческетті-Джадассона","synonyms":["Синдром Негелі","Синдром NFJ"],"definition":"A rare ectodermal dysplasia that affects the skin, sweat glands, nails, and teeth."},"zh":{"name":"Naegeli-Franceschetti-Jadassohn综合征","synonyms":["Naegeli综合征"]},"tr":{"name":"Naegeli-Franceschetti-Jadassohn sendromu","synonyms":["NFJ sendromu","Naegeli sendromu"]}},"xrefs":[{"source":"OMIM","code":"161000","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"352035640"},{"source":"MONDO","code":"0008059","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538331","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0343111","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3912","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98352,"name":"Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature","classifications":[156,187]},{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]},{"orpha":183466,"name":"Genetic hyperpigmentation of the skin","classifications":[156]},{"orpha":79375,"name":"Hyperpigmentation of the skin","classifications":[187]}],"children":[],"genes":[{"symbol":"KRT14","name":"keratin 14","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"6416","ensembl":"ENSG00000186847","omim":"148066","loci":["17q21.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.035,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-12-06","source":"24261749[PMID]_31148864[PMID]","terms":[{"hpo":"HP:0007455","label":"Adermatoglyphia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007427","label":"Reticulated skin pigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006482","label":"Abnormal dental morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007500","label":"Decreased number of sweat glands","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001808","label":"Fragile nails","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002046","label":"Heat intolerance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000966","label":"Hypohidrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031282","label":"Malalignment of the great toenail","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008404","label":"Nail dystrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008392","label":"Subungual hyperkeratosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031045","label":"Acral blistering","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000970","label":"Anhidrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000670","label":"Carious teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001810","label":"Dystrophic toenail","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006297","label":"Enamel hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012785","label":"Flexion contracture of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007599","label":"Generalized reticulate brown pigmentation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005586","label":"Hyperpigmentation in sun-exposed areas","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001010","label":"Hypopigmentation of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001220","label":"Interphalangeal joint contracture of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001056","label":"Milia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001806","label":"Onycholysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000972","label":"Palmoplantar hyperkeratosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006480","label":"Premature loss of teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007530","label":"Punctate palmoplantar hyperkeratosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011069","label":"Supernumerary tooth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006253","label":"Swelling of proximal interphalangeal joints","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006286","label":"Yellow-brown discoloration of the teeth","frequency":"Occasional (29-5%)","criteria":null}]}}