{"orpha":1997,"name":"Blepharo-cheilo-odontic syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["BCD syndrome","Blepharocheilodontic syndrome","Clefting-ectropion-conical teeth syndrome","Ectropion inferior-cleft lip and/or palate syndrome","Elschnig syndrome","Lagophthalmia-cleft lip and palate syndrome"],"definition":"A rare ectodermal dysplasia syndrome characterized by the association of lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1997/","orphanet_url":"https://www.orpha.net/en/disease/detail/1997","names":{"fr":{"name":"Syndrome blépharo-cheilo-odontique","synonyms":["Syndrome d'ectropion inférieur-fente labiopalatine","Syndrome de fente labiopalatine-ectropion de la paupière-dents coniques","Syndrome de lagophtalmie-fente labiopalatine","Syndrome BCD","Syndrome blépharocheilodontique","Syndrome d'Elschnig"],"definition":"Syndrome dysplasique ectodermique rare caractérisé par l'association d'un ectropion de la paupière inférieure, d'un distichiasis de la paupière supérieure, d'un euryblépharon, d'une fente labiale et palatine bilatérale et de dents de forme conique."},"de":{"name":"Blepharo-cheilo-dontie-Syndrom","synonyms":["BCD-Syndrom","Elschnig-Syndrom","Inferiores Ektropium-Lippen- und/oder Gaumenspalte-Syndrom","Lagophthalmus-Lippen-Kiefer-Gaumenspalte-Syndrom","Spaltbildung-Ektropium-konische Zähne-Syndrom"],"definition":"Ein seltenes Ektodermale-Dysplasie-Syndrom, das durch die Assoziation von Ektropium des unteren Augenlids, Distichiasis des oberen Augenlids, Euryblepharon, beidseitiger Lippen- und Gaumenspalte und konischen Zähnen gekennzeichnet ist."},"es":{"name":"Síndrome bléfaro-queilo-odóntico","synonyms":["Síndrome blefaroqueiloodóntico","Síndrome de Elsching","Síndrome de ectropión inferior-labio leporino y/o paladar hendido","Síndrome de hendidura-ectropión-dientes cónicos","Síndrome de lagoftalmia-labio leporino y paladar hendido"],"definition":"Es un síndrome de displasia ectodérmica poco frecuente caracterizado por la asociación de ectropión del párpado inferior, distiquiasis del párpado superior, euriblefaron (Parpados amplios con zona lateral inferior evertida), labio leporino y paladar hendido bilateral y dientes cónicos."},"it":{"name":"Sindrome blefaro-cheilo-dentale","synonyms":["Ectropion inferiore - labio/palatoschisi","Lagoftalmo - labiopalatoschisi","Schisi - ectropion - denti conici","Sindrome BCD","Sindrome blefarocheilodentale","Sindrome di Elsching"],"definition":"La sindrome blefaro-cheilo-dentale (BCD) è una displasia ectodermica rara, caratterizzata da ectropion della palpebra inferiore, distichiasi della palpebra superiore, euriblefaron, labioschisi e palatoschisi bilaterali, e denti conici."},"nl":{"name":"Blefaro-cheilo-odontisch syndroom","synonyms":["BCD syndroom","Blefarocheilodontisch syndroom","Ectropion inferior - gespleten lip en/of verhemelte-syndroom","Lagoftalmie - gespleten lip en verhemelte-syndroom","Lagoftalmie - gespleten lip en/of verhemelte-syndroom","Splijting - ectropion - conische tanden-syndroom","Syndroom van Elsching"],"definition":"Een zeldzaam syndroom van ectodermale dysplasie, gekarakteriseerd door de associatie van ectropion van onderste ooglid, distichiasis van bovenste ooglid, euryblefaron, bilateraal gespleten lip en gehemelte, en kegelvormige tanden."},"pt":{"name":"Síndrome blefaro-queilo-odôntico","synonyms":["Síndrome de ectropion inferior-fenda labial e/ou palatina","Síndrome de fenda-ectropion-dentes cónicos"]},"pl":{"name":"Zespół powiekowo-wargowo-zębowy","synonyms":["Niedomykalność powiek - rozszczep wargi i podniebienia","Rozszczep - ektropion - zęby stożkowate","Wywinięcie powieki dolnej - rozszczep wargi lub podniebienia","Zespół BCD","Zespół Elschinga"]},"cs":{"name":"Blefarocheiloodontický syndrom","synonyms":["BCD syndrom","Syndrom zahrnující rozštěp, ektropium a kuželovité zuby","Syndrom zahrnující ektropium dolního očního víčka a rozštěp rtu nebo patra","Elschingův syndrom","Syndrom zahrnující lagoftalmus a rozštěp rtu a patra"]},"uk":{"name":"Блефаро-хайло-одонтологічний синдром","synonyms":["Синдром BCD","Блефарохейлодонтичний синдром","Синдром розщеплення ектропіонно-конічних зубів","Синдром ектропіонної нижньої губи та/або піднебіння","Синдром Ельшніга","Синдром лагофтальмії - розщеплення губи та піднебіння"],"definition":"A rare ectodermal dysplasia syndrome characterized by the association of lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth."},"zh":{"name":"眼睑-上唇-牙齿综合征","synonyms":["下眼睑外翻-唇腭裂综合征"]},"tr":{"name":"Blefaro-cheilo-odontik sendrom","synonyms":["BCD sendromu","Elschnig sendromu","Blefarokeilodontik sendromu","Yarık-ektropiyon-konik diş sendromu","Lagoftalmi-yarık dudak ve damak sendromu","Ektropiyon inferior-yarık dudak ve / veya damak sendromu"]}},"xrefs":[{"source":"OMIM","code":"119580","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"617681","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"755252042"},{"source":"MONDO","code":"0007339","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536188","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1861536","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2071","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98570,"name":"Congenital ectropion","classifications":[147,156,189]},{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]},{"orpha":183580,"name":"Genetic malformation syndrome with odontal and/or periodontal component","classifications":[156]},{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":139042,"name":"Malformation syndrome with odontal and/or periodontal component","classifications":[147,197]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":139039,"name":"Orofacial clefting syndrome","classifications":[147,156,200,209]}],"children":[],"genes":[{"symbol":"CDH1","name":"cadherin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"28301459[PMID]","hgnc":"1748","ensembl":"ENSG00000039068","omim":"192090","loci":["16q22.1"]},{"symbol":"CTNND1","name":"catenin delta 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"28301459[PMID]","hgnc":"2515","ensembl":"ENSG00000198561","omim":"601045","loci":["11q12.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":55.0,"area":"Worldwide","status":"Validated","source":"EXPERT_24719364[PMID]_28181393[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"EXPERT_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000492","label":"Abnormal eyelid morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009743","label":"Distichiasis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007651","label":"Ectropion of lower eyelids","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000504","label":"Abnormality of vision","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000670","label":"Carious teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000698","label":"Conical tooth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012905","label":"Euryblepharon","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011362","label":"Abnormal hair quantity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200040","label":"Epidermoid cyst","frequency":"Occasional (29-5%)","criteria":null}]}}