{"orpha":113,"name":"Bazex-Dupré-Christol syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["BDCS","Follicular atrophoderma and basal cell carcinomas"],"definition":"Bazex-Dupré-Christol syndrome is a rare genodermatosis with a predisposition to early-onset basal cell carcinomas.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-113/","orphanet_url":"https://www.orpha.net/en/disease/detail/113","names":{"fr":{"name":"Syndrome de Bazex-Dupré-Christol","synonyms":["Atrophodermie folliculaire et carcinomes basocellulaires","BDCS"],"definition":"Le syndrome de Bazex-Dupré-Christol est une génodermatose rare prédisposant à la survenue précoce de carcinomes basocellulaires."},"de":{"name":"Bazex-Dupré-Christol-Syndrom","synonyms":["Atrophodermie, follikuläre - Basaliome","BDCS"],"definition":"Das Bazex-Dupré-Christol-Syndrom ist eine seltene Genodermatose mit Prädisposition zu früh auftretenden Basalzell-Karzinomen."},"es":{"name":"Síndrome de Bazex-Dupré-Christol","synonyms":["Atrofodermia folicular y carcinomas de células basales","BDCS"],"definition":"El síndrome de Bazex-Dupré-Christol es una genodermatosis rara que predispone a la aparición temprana de carcinomas basocelulares."},"it":{"name":"Sindrome di Bazex-Dupré-Christol","synonyms":["Atrofodermia follicolare e carcinomi basocellulari","BDCS"]},"nl":{"name":"Syndroom van Bazex-Dupré-Christol","synonyms":["BDCS","Folliculaire atrofodermie en basaalcelcarcinomen"],"definition":"Een zeldzame genodermatose met predispositie voor vroeg optredende basaalcelcarcinomen."},"pt":{"name":"Síndrome Bazex-Dupre-Christol","synonyms":["Síndrome Bazex"],"definition":"A síndrome Bazex-Dupré-Christol é uma genodermatose rara de predisposição para carcinomas basocelulares com início precoce."},"pl":{"name":"Zespół Bazex, Dupré i Christol","synonyms":["Atrofodermia i rak podstawnokomórkowy","BDCS"]},"cs":{"name":"Folikulární atrophoderma a bazocelulární karcinom","synonyms":["BDCS","Folikulární atrophoderma a bazaliom","Folikulární atrophoderma a karcinom bazálních buněk","Bazexův-Dupréův-Christolův syndrom","Bazex-Dupré-Christolův syndrom"]},"uk":{"name":"Синдром Базекса-Дюпре-Крістоля","synonyms":["BDCS","Фолікулярна атрофодермія та базальноклітинні карциноми"],"definition":"Bazex-Dupré-Christol syndrome is a rare genodermatosis with a predisposition to early-onset basal cell carcinomas."},"zh":{"name":"Bazex-DuprÚ-Christol综合征","synonyms":["毛囊性皮肤萎缩和基底细胞上皮癌"]},"tr":{"name":"Bazex-Dupré-Christol sendromu","synonyms":["BDCS","Foliküler atrofoderma ve bazal hücreli karsinomlar"]}},"xrefs":[{"source":"OMIM","code":"301845","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.5","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"403754879"},{"source":"MONDO","code":"0010535","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537663","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0346104","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"838","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":79458,"name":"Oley syndrome","status":"inactive"},{"type":"Referred to","orpha":79459,"name":"OBSOLETE: Follicular atrophoderma-basal cell carcinoma","status":"inactive"}],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":183487,"name":"Genetic skin tumor or hamartoma","classifications":[156]},{"orpha":139027,"name":"Rare developmental defect with skin/mucosae involvement","classifications":[147,156]},{"orpha":79386,"name":"Rare skin tumor or hamartoma","classifications":[187,202]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["X-linked dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":143.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"10804303[PMID]_21428980[PMID]","terms":[{"hpo":"HP:0002208","label":"Coarse hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002671","label":"Basal cell carcinoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001056","label":"Milia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003777","label":"Pili torti","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0045075","label":"Sparse eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200102","label":"Sparse or absent eyelashes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002209","label":"Sparse scalp hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001482","label":"Subcutaneous nodule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009886","label":"Trichorrhexis nodosa","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001167","label":"Abnormality of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000889","label":"Abnormality of the clavicle","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100777","label":"Exostoses","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100720","label":"Hypoplasia of the ear cartilage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Occasional (29-5%)","criteria":null}]}}