{"orpha":1681,"name":"Diprosopus","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Craniofacial duplication","Diprosopia"],"definition":"Diprosopus is a rare, life-threatening developmental defect during embryogenesis, and a subtype of conjoined twins, characterized by partial or complete duplication of the facial structures on a single head, neck, trunk and body. It may be associated with congenital anomalies involving the cardiovascular, gastrointestinal, respiratory and central nervous systems. Cleft lip and palate have been reported in rare cases.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1681/","orphanet_url":"https://www.orpha.net/en/disease/detail/1681","names":{"fr":{"name":"Diprosopie","definition":"La diprosopie est une anomalie rare du développement au cours de l'embryogenèse, mettant en jeu le pronostic vital. Ce sous-type des frères siamois est caractérisé par une duplication partielle ou complète des structures faciales sur une seule tête, cou, tronc et corps. Des anomalies congénitales peuvent être associées, impliquant les systèmes cardiovasculaire, gastro-intestinal, respiratoire et nerveux central. De rares cas de fente labiale et palatine ont été rapportés."},"de":{"name":"Diprosopus","synonyms":["Diprosopie","Doppelgesicht"],"definition":"Diprosopus ist ein seltener, lebensbedrohlicher Entwicklungsdefekt während der Embryogenese. Es handelt sich um einen Subtyp von siamesischen Zwillingen, der durch eine teilweise oder vollständige Verdoppelung der Gesichtsstrukturen an einem Kopf, Hals, Rumpf und Körper gekennzeichnet ist. Weitere assoziierte kongenitalen Anomalien können das kardiovaskuläre, gastrointestinale, respiratorische und zentrale Nervensystem betreffen. Lippen- und Gaumenspalten wurden in seltenen Fällen berichtet."},"es":{"name":"Diprosopus","synonyms":["Diprosopia","Duplicación cráneofacial"],"definition":"El diprosopus es un defecto de desarrollo durante la embriogénesis poco frecuente y potencialmente mortal, y un subtipo de gemelos unidos, que se caracteriza por la duplicación parcial o completa de las estructuras faciales en una única cabeza, cuello, tronco y cuerpo. Puede estar asociado con anomalías congénitas que afectan a los sistemas cardiovascular, gastrointestinal, respiratorio y nervioso central. Se ha descrito la presencia de labio y el paladar hendido en algunos casos."},"it":{"name":"Diprosopia","definition":"La diprosopia è un difetto raro, potenzialmente letale dello sviluppo dell'embrione che definisce un sottotipo di gemelli congiunti. È caratterizzata dalla duplicazione parziale o completa delle strutture del volto con testa, collo, tronco e corpo unici. Può associarsi ad anomalie congenite del sistema cardiovascolare, gastrointestinale, respiratorio e nervoso centrale. Sono stati descritti casi di labioschisi e palatoschisi."},"nl":{"name":"Diprosopus","synonyms":["Craniofaciale duplicatie","Diprosopie"],"definition":"Diprosopus is een zeldzaam, levensbedreigend ontwikkelingsdefect tijdens de embryogenese, en een subtype van Siamese tweeling, dat gekarakteriseerd wordt door partiële of volledige duplicatie van de gezichtsstructuren op één hoofd, nek, romp en lichaam. Het kan geassocieerd zijn met congenitale anomalieën waarbij het cardiovasculaire, gastro-intestinale en respiratoire systeem en het centrale zenuwstelsel betrokken zijn. In zeldzame gevallen werden gespleten lip en verhemelte gerapporteerd."},"pt":{"name":"Diprosopia"},"pl":{"name":"Diprosopia","synonyms":["Craniofacial duplication","Diprosopia"]},"cs":{"name":"Diprozopie","synonyms":["Craniofacial duplication","Diprosopia"]},"uk":{"name":"Diprosopus","synonyms":["Черепно-лицьова дуплікація","Дипросопія"],"definition":"Diprosopus is a rare, life-threatening developmental defect during embryogenesis, and a subtype of conjoined twins, characterized by partial or complete duplication of the facial structures on a single head, neck, trunk and body. It may be associated with congenital anomalies involving the cardiovascular, gastrointestinal, respiratory and central nervous systems. Cleft lip and palate have been reported in rare cases."},"zh":{"name":"双面畸形","synonyms":["颅面重复畸形"]},"tr":{"name":"Diprosopus","synonyms":["Diprosopi","Kraniyofasiyal duplikasyon"]}},"xrefs":[{"source":"ICD-10","code":"Q89.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0015672","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0266731","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1876","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":459787,"name":"Lethal multiple congenital anomalies/dysmorphic syndrome","classifications":[147]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["No data available"],"onset":["Antenatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.2,"area":"Argentina","status":"Validated","source":"27704687[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":33.0,"area":"Worldwide","status":"Validated","source":"27704687[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27704687[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001671","label":"Abnormal cardiac septum morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007703","label":"Abnormality of retinal pigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000271","label":"Abnormality of the face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000366","label":"Abnormality of the nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000504","label":"Abnormality of vision","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002323","label":"Anencephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100335","label":"Non-midline cleft of the upper lip","frequency":"Frequent (79-30%)","criteria":null}]}}