{"orpha":3088,"name":"Revesz syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Dyskeratosis congenita with bilateral exudative retinopathy","Retinopathy-anemia-central nervous system anomalies syndrome","Revesz-DeBuse syndrome"],"definition":"Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3088/","orphanet_url":"https://www.orpha.net/en/disease/detail/3088","names":{"fr":{"name":"Syndrome de Revesz","synonyms":["Dyskératose congénitale avec rétinopathie exsudative bilatérale","Syndrome de Revesz-DeBuse","Syndrome de rétinopathie-anémie-anomalies du SNC","Syndrome de rétinopathie-anémie-anomalies du système nerveux central"],"definition":"Variant phénotypique sévère et rare de la dyskératose congénitale (DC) qui se manifeste dès la petite enfance par des signes de DC (hyper/hypopigmentation de la peau, dystrophie unguéale, leucoplasie buccale, risque élevé d'insuffisance médullaire et de cancer, retard de développement, cheveux fins et clairsemés) en association avec une rétinopathie exsudative bilatérale et des calcifications intracrâniennes."},"de":{"name":"Revesz-Syndrom","synonyms":["Dyskeratosis congenita mit bilateraler exsudativer Retinopathie","Retinopathie - Anämie - ZNS-Anomalien","Revesz-Debuse-Syndrom"]},"es":{"name":"Síndrome de Revesz","synonyms":["Disqueratosis congénita con retinopatía exudativa bilateral","Síndrome de Revesz-DeBuse","Síndrome de retinopatía-anemia-anomalías del sistema nervioso central"],"definition":"Es una variante fenotípica grave poco frecuente de la disqueratosis congénita (DC) que aparece en la primera infancia y se caracteriza por características de la DC (como hiper/hipopigmentación de la piel, distrofia ungueal, leucoplasia oral, alto riesgo de insuficiencia medular y cáncer, retraso en el desarrollo del cabello escaso y fino) en asociación con retinopatía exudativa bilateral y calcificaciones intracraneales."},"it":{"name":"Sindrome di Revesz","synonyms":["Discheratosi congenita con retinopatia essudativa bilaterale","Sindrome di Revesz-DeBuse","Sindrome retinopatia-anemia-anomalie del sistema nervoso centrale"]},"nl":{"name":"Syndroom van Revesz","synonyms":["Dyskeratosis congenita met bilaterale exsudatieve retinopathie","Retinopathie - anemie - anomalieën van centraal zenuwstelsel-syndroom","Syndroom van Revesz-DeBuse"],"definition":"Reveszsyndroom is een zeldzame, ernstige fenotypische variant van dyskeratosis congenita (DC; zie deze term) met aanvang in de vroege kindertijd, en die gekenmerkt wordt door eigenschappen van DC (bvb. hyper/hypopigmentatie van de huid, nageldystrofie, orale leukoplakie, hoog risico op beenmergfalen (BMF) en kanker, ontwikkelingsachterstand, dun en fijn haar) in combinatie met bilaterale exsudatieve retinopathie, en intracraniale calcificaties."},"pt":{"name":"Síndrome Revesz","synonyms":["Disqueratose congénita com retinopatia exsudativa bilateral","Síndrome Revesz-DeBuse","Síndrome de retinopatia-anemia-anomalias do sistema nervoso central"]},"pl":{"name":"Zespół Revesza","synonyms":["Dyskeratoza wrodzona z obustronną retinopatią wysiękową","Zespół retinopatii, niedokrwistości i wad centralnego układu nerwowego","Zespół Revesz i DeBuse'ego"]},"cs":{"name":"Reveszův syndrom","synonyms":["Dyskeratosis congenita s bilaterální exudativní retinopatií","Syndrom zahrnující retinopatii, anémii a anomálie centrálního nervového systému","Reveszův-DeBuseův syndrom","Revesz-DeBuseův syndrom"]},"uk":{"name":"Синдром Ревежа","synonyms":["Вроджений дискератоз з двобічною ексудативною ретинопатією","Синдром ретинопатії-анемії-аномалій центральної нервової системи","Синдром Ревеса-Дебуса"],"definition":"Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC; see this term) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications."},"zh":{"name":"Revesz综合征","synonyms":["视网膜病-贫血-中枢神经系统异常综合征"]},"tr":{"name":"Revesz sendromu","synonyms":["Revesz-DeBuse sendromu","Bilateral eksüdatif retinopati ile seyreden diskeratozis konjenita","Retinopati-anemi-merkezi sinir sistemi anomalileri sendromu"]}},"xrefs":[{"source":"OMIM","code":"268130","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3A70.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009990","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538371","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1327916","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4695","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":728475,"name":"Inherited bone marrow failure disorder with immune defect","classifications":[156,195]},{"orpha":68383,"name":"Rare constitutional aplastic anemia","classifications":[156,194,233]},{"orpha":717348,"name":"Rare genetic disorder with progressive retinal vasculopathy as a major feature","classifications":[156]}],"children":[],"genes":[{"symbol":"TINF2","name":"TERF1 interacting nuclear factor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18252230[PMID]_21477109[PMID]","hgnc":"11824","ensembl":"ENSG00000092330","omim":"604319","loci":["14q12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"1404302[PMID]_18252230[PMID]_21477109[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET_1404302[PMID]_18252230[PMID]_21477109[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-04-18","source":"17901676[PMID]_17874088[PMID]_33097095[PMID]","terms":[{"hpo":"HP:0005528","label":"Bone marrow hypocellularity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0430048","label":"Intracranial calcification","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001915","label":"Aplastic anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007898","label":"Exudative retinopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007617","label":"Fine, reticulate skin pigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008404","label":"Nail dystrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002745","label":"Oral leukoplakia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000541","label":"Retinal detachment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004334","label":"Dermal atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001531","label":"Failure to thrive in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null}]}}