{"orpha":46627,"name":"Char syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits"],"definition":"A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism (wide-set eyes, downslanting palpebral fissures, mild ptosis, flat midface, flat nasal bridge and upturned nasal tip, short philtrum with a triangular mouth, and thickened, everted lips) and hand anomalies (aplasia or hypoplasia of the middle phalanges of the fifth fingers).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-46627/","orphanet_url":"https://www.orpha.net/en/disease/detail/46627","names":{"fr":{"name":"Syndrome de Char","synonyms":["Syndrome de persistance du canal artériel-dysmorphie faciale-anomalies du cinquième doigt"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique rare d'origine génétique, caractérisé par une triade associant persistance du canal artériel (PDA), dysmorphie faciale (yeux écarquillés, fentes palpébrales inclinées vers le bas, ptosis léger, étage médian de la face aplati, pont nasal plat et nez retroussé, philtrum court et bouche triangulaire, lèvres épaisses et éversées) et anomalies de la main (aplasie ou hypoplasie des phalanges médianes des 5<sup>es</sup> doigts)."},"de":{"name":"Char-Syndrom","synonyms":["Persistierender Ductus arteriosus mit Gesichtsdysmorphie und abnormalen fünften Finger"],"definition":"Ein seltenes, genetisch bedingtes, multiples kongenitales Anomalien/Dysmorphie-Syndrom, das gekennzeichnet ist durch die Trias aus patentem Ductus arteriosus (PDA), Gesichtsdysmorphien (weit auseinander liegende Augen, schräg abwärts verlaufende Lidspalten, leichte Ptosis, flaches Mittelgesicht, flacher Nasenrücken und nach oben gebogene Nasenspitze, kurzes Philtrum mit dreieckigem Mund und verdickte evertierte Lippen) und Handanomalien (Aplasie oder Hypoplasie der mittleren Phalangen der fünften Finger)."},"es":{"name":"Síndrome de Char","synonyms":["Conducto arterioso permeable con dismorfia facial y anomalías del meñique"],"definition":"Es un síndrome dismórfico/ de anomalías congénitas múltiples poco frecuente caracterizado por la tríada de ductus arterioso persistente (DAP), dismorfia facial (ojos separados, fisuras palpebrales descendentes, leve ptosis, tercio mediofacial aplanado, puente nasal plano y nariz con punta levantada, filtrum corto con boca triangular y labios gruesos evertidos) y anomalías de las manos (aplasia o hipoplasia de las falanges medias del quinto dedo)."},"it":{"name":"Sindrome di Char","synonyms":["Dotto arterioso pervio - dismorfismi facciali - anomalie del V dito"],"definition":"La sindrome di Char è una malattia genetica rara da anomalie/dismorfismi congeniti multipli, caratterizzata dalla triade dotto arterioso pervio (DAP), dismorfismi facciali (occhi infossati, rime palpebrali oblique verso il basso, ptosi lieve, appiattimento della porzione medio-facciale, sella nasale piatta e punta del naso rivolta verso l'alto, filtro corto con bocca a triangolo e labbra grosse e anteverse) e anomalie delle mani (aplasia o ipoplasia delle falangi medie del quinto dito)."},"nl":{"name":"Syndroom van Char","synonyms":["Persisterende ductus arteriosus met faciale dysmorfie en abnormale vijfde vingers"],"definition":"Een zeldzaam, genetisch meervoudige congenitale anomalieën/dysmorfie-syndroom dat gekarakteriseerd wordt door de triade van persisterende ductus arteriosus (PDA), faciale dysmorfie (ver uit elkaar staande ogen, neerwaarts hellende ooglidspleten, milde ptose, plat middengezicht, platte neusbrug en wipneus, kort filtrum met een driehoekige mond, en dikke, geëverteerde lippen) en handanomalieën (aplasie of hypoplasie van de middelste falangen van de vijfde vingers)."},"pt":{"name":"Síndrome Char","synonyms":["Canal arterial persistente com dismorfia facial e anomalias dos quintos dedos"],"definition":"Síndrome de múltiplas anomalias congénitas/dismórficas, genética, rara, caracterizada pela tríade de persistência do canal arterial (PCA), dismorfismo facial (olhos arregalados, fissuras palpebrais inclinadas para baixo, ptose ligeira, face média plana, ponte nasal plana e ponta nasal arrebitada, filtro curto com boca triangular e lábios espessados &#8203;&#8203;e evertidos) e anomalias nas mãos (aplasia ou hipoplasia das falanges médias dos quintos dedos)."},"pl":{"name":"Zespół Char","synonyms":["Przetrwały przewód tętniczy z dysmorfią twarzy i nieprawidłowymi piątymi palcami rąk"]},"cs":{"name":"Char syndrom","synonyms":["Otevřená Botallova tepenná dučej s faciálním dysmorfismem a abnormálním pátým prstem na ruce"]},"uk":{"name":"Синдром Чар","synonyms":["Відкрита артеріальна протока з дисморфізмом обличчя та аномальними пятими пальцями"],"definition":"A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism (wide-set eyes, downslanting palpebral fissures, mild ptosis, flat midface, flat nasal bridge and upturned nasal tip, short philtrum with a triangular mouth, and thickened, everted lips) and hand anomalies (aplasia or hypoplasia of the middle phalanges of the fifth fingers)."},"zh":{"name":"Char综合征","synonyms":["动脉导管未闭伴面部畸形和第五指异常"]},"tr":{"name":"Char sendromu","synonyms":["Fasiyal dismorfizmi ve anormal beşinci basamaklı patent duktus arteriyozus"]}},"xrefs":[{"source":"OMIM","code":"169100","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008209","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566815","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1868570","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1237","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":98578,"name":"Rare disorder with ptosis","classifications":[147,156,189]}],"children":[],"genes":[{"symbol":"TFAP2B","name":"transcription factor AP-2 beta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301285[PMID]","hgnc":"11743","ensembl":"ENSG00000008196","omim":"601601","loci":["6p12.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":109.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]_31012281[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000457","label":"Depressed nasal ridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012471","label":"Thick vermilion border","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000207","label":"Triangular mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006159","label":"Mesoaxial hand polydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004220","label":"Short middle phalanx of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006349","label":"Agenesis of permanent teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001161","label":"Hand polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010112","label":"Mesoaxial foot polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006335","label":"Persistence of primary teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000269","label":"Prominent occiput","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002558","label":"Supernumerary nipple","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004218","label":"Symphalangism of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null}]}}