{"orpha":96095,"name":"3q26 microduplication syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Dup(3)(q26)","Dup(3q) syndrome","Trisomy 3q26"],"definition":"A rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, developmental delay, intellectual impairment, dysmorphic signs and variable combination of congenital anomalies, including cardiovascular, genitourinary and skeletal anomalies and spectrum of caudal malformations.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-96095/","orphanet_url":"https://www.orpha.net/en/disease/detail/96095","names":{"fr":{"name":"Syndrome de microduplication 3q26","synonyms":["Dup(3)(q26)","Syndrome dup(3q)","Trisomie 3q26"],"definition":"Anomalie chromosomique rare caractérisée par un retard de croissance pré- et post-natale, un retard de développement, une déficience intellectuelle, une dysmorphie et une association variable d'anomalies congénitales, y compris cardiovasculaires, génito-urinaires et squelettiques, ainsi qu'un spectre de malformations caudales."},"de":{"name":"Mikroduplikationssyndrom 3q26","synonyms":["Trisomie 3q26","dup(3q)-Syndrom","Cornelia de Lange-ähnliches Syndrom","Dup(3)(q26)"]},"es":{"name":"Síndrome de microduplicación 3q26","synonyms":["Dup(3)(q26)","Síndrome dup(3q)","Trisomía 3q26"],"definition":"El síndrome de microduplicación 3q26, es una anomalía cromosómica poco frecuente caracterizada por retraso del crecimiento pre- y postnatal, retraso del desarrollo, discapacidad intelectual, signos dismórficos y combinación variable de anomalías congénitas, que incluyen anomalías cardiovasculares, genitourinarias y esqueléticas y un espectro de malformaciones caudales."},"it":{"name":"Sindrome da microduplicazione 3q26","synonyms":["Dup(3)(q26)","Sindrome Cornelia de Lange-simile","Trisomia 3q26"],"definition":"La sindrome da microduplicazione 3q26 è un'anomalia cromosomica rara, caratterizzata da ritardo della crescita pre- e postnatale, ritardo dello sviluppo, disabilità intellettiva, dismorfismi ed anomalie congenite variabili, cardiovascolari, genito-urinarie e scheletriche, e malformazioni caudali."},"nl":{"name":"3q26-microduplicatiesyndroom","synonyms":["Dup(3)(q26)","Dup(3q)-syndroom","Trisomie 3q26"],"definition":"3q26 microduplicatiesyndroom is een zeldzame chromosomale anomalie die gekarakteriseerd wordt door prenatale en postnatale groeiretardatie, ontwikkelingsachterstand, intellectuele beperking, dysmorfe tekenen en variabele combinaties van congenitale anomalieën, waaronder cardiovasculaire, genito-urinaire en skeletanomalieën en een spectrum van caudale malformaties."},"pt":{"name":"Síndrome de microduplicação 3q26","synonyms":["Trissomia 3q26"]},"pl":{"name":"Zespół mikroduplikacji 3q26","synonyms":["Dup(3)(q26)","Trisomia 3q26","Zespół podobny do zespołu Cornelii de Lange"],"definition":"*Zespół mikroduplikacji 3q26 to rzadka aberracja chromosomowa, która charakteryzuje się opóźnieniem wzrastania w okresie prenatalnym i pourodzeniowym, opóźnieniem rozwoju, niepełnosprawnością intelektualną, cechami dysmorfii i zmienną kombinacją wad wrodzonych, w tym wad układu sercowo-naczyniowego, moczowo-płciowego i kostnego oraz wadami ze spektrum wad kaudalnych (ogonowych)."},"cs":{"name":"Mikroduplikační syndrom 3q26","synonyms":["Cornelia de Lange-like syndrom","Dup(3)(q26)","Trizomie 3q26"]},"uk":{"name":"Синдром мікродуплікації 3q26","synonyms":["Dup(3)(q26)","Синдром Dup(3q)","Трисомія 3q26"],"definition":"A rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, developmental delay, intellectual impairment, dysmorphic signs and variable combination of congenital anomalies, including cardiovascular, genitourinary and skeletal anomalies and spectrum of caudal malformations."},"zh":{"name":"3q26微重复综合征","synonyms":["3号染色体长臂重复综合征"],"definition":"3q26微重复综合征是一种罕见的染色体异常，其特征是产前和产后生长迟缓、发育迟缓、智力障碍、畸形体征，和多种先天性异常组合，包括心血管、泌尿生殖和骨骼异常以及尾端畸形谱系。"},"tr":{"name":"3q26 mikroduplikasyon sendromu","synonyms":["Dup (3) (q26)","Trizomi 3q26","Dup (3q) sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q92.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD41.20","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"191820896"},{"source":"MONDO","code":"0019878","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4755319","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98642,"name":"Chromosomal anomaly with cataract","classifications":[156,189]},{"orpha":262851,"name":"Partial duplication of the long arm of chromosome 3 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":100.0,"area":"Worldwide","status":"Validated","source":"27549440[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27549440[PMID]"}],"phenotypes":null}