{"orpha":96107,"name":"Distal duplication 20q syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Distal trisomy 20q","Telomeric duplication 20q","Trisomy 20qter"],"definition":"Distal trisomy 20q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 20, with high phenotypic variability mostly characterized by neurodevelopmental delay, cardiac malformations (e.g. ventricular septal defect, coarctation of aorta) and facial dysmorphism (incl. large/high forehead, microphthalmia, upslanting palpebral fissures, epicanthus, large, long, low-set ears, anteverted nares, protruding upper lip, cleft lip/palate, micro/retrognathia, dimpled chin). Skeletal (brachydactyly, scoliosis, pectus excavatum) and cerebral anomalies have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-96107/","orphanet_url":"https://www.orpha.net/en/disease/detail/96107","names":{"fr":{"name":"Syndrome de duplication distale 20q","synonyms":["Duplication 20qter","Duplication télomérique 20q","Trisomie 20qter","Trisomie distale 20q","Trisomie télomérique 20q"],"definition":"Un syndrome rare d'anomalie chromosomique causé par la trisomie partielle du bras long du chromosome 20. Le phénotype est très variable et se caractérise surtout par un retard neuro-développemental, des malformations cardiaques (comme une communication interventriculaire, une coarctation de l'aorte) et une dysmorphie faciale (incluant un front large/haut, une microphtalmie, des fentes palpébrales obliques en haut et en dehors, un épicanthus, des oreilles larges, longues et implantées basses, des narines éversées, une lèvre supérieure protrusive, une fente labiale/palatine, une micro-/rétrognathie, un menton avec des fossettes). Des anomalies squelettiques (brachydactylie, scoliose, pectus excavatum) et cérébrales ont aussi été rapportées."},"de":{"name":"Distale Duplikation 20q","synonyms":["Distale Trisomie 20q","Duplikation 20q, distale","Telomere Duplikation 20q","Trisomie 20qter"],"definition":"Die distale Trisomie 20q ist eine seltene Chromosomenanomalie, die aus der partiellen Trisomie des langen Arms von Chromosom 20 resultiert und mit starker phänotypischer Variabilität einhergeht. Charakteristische Merkmale sind neurologische Entwicklungsverzögerung, kardiale Fehlbildungen (z.B. Ventrikelseptumdefekt, Aortenisthmusstenose) und Gesichtsdysmorphien (u.a. große/hohe Stirn, Mikrophthalmie, aufsteigende Lidachsen, Epikanthus, große, lange, tief angesetzte Ohren, vorspringende Nasenlöcher, abstehende Oberlippe, Lippen-Gaumenspalte, Mikro-/Retrognathie, Grübchenkinn). Skelettanomalien (Brachydaktylie, Skoliose, Pectus excavatum) und zerebrale Anomalien sind ebenfalls berichtet worden."},"es":{"name":"Síndrome de duplicación terminal 20q","synonyms":["Trisomía 20qter","Trisomía terminal 20q"],"definition":"La trisomía terminal 20q es un síndrome por anomalía cromosómica poco frecuente, resultante de la trisomía parcial del brazo largo del cromosoma 20, con una gran variabilidad fenotípica caracterizada fundamentalmente por retraso del desarrollo neurológico, malformaciones cardíacas (p. ej., defecto septal ventricular, coartación de la aorta) y dismorfia facial (incl. frente grande/alta, microftalmia, fisuras palpebrales inclinadas hacia arriba, epicanto, orejas grandes, largas y de baja implantación, narinas antevertidas, labio superior prominente, labio leporino/paladar hendido, micro/retrognatia, hoyuelo en el mentón). También se han notificado anomalías esqueléticas (braquidactilia, escoliosis, pectus excavatum) y cerebrales."},"it":{"name":"Duplicazione 20q distale","synonyms":["Trisomia 20q distale","Duplicazione 20q telomerica","Trisomia 20qter"],"definition":"La trisomia 20q distale è un'anomalia cromosomica rara, causata dalla trisomia parziale del braccio lungo del cromosoma 20. Il quadro clinico è molto variabile ed è prevalentemente caratterizzato da ritardo dello sviluppo neurologico, cardiopatie (difetto del setto interventricolare, coartazione dell'aorta) e dismorfismi facciali (fronte ampia/alta, microftalmia, rime palpebrali oblique verso l'alto, epicanto, orecchie grandi, lunghe e a basso impianto, narici anteverse, labbro superiore prominente, labioschisi/palatoschisi, micro/retrognazia, fossetta mentoniera). Sono noti pazienti con anomalie scheletriche (brachidattilia, scoliosi, pectus excavatum) e cerebrali."},"nl":{"name":"Distale duplicatie 20q-syndroom","synonyms":["Distale trisomie 20q","Telomerische duplicatie 20q","Trisomie 20qter"],"definition":"Distale trisomie 20q is een zeldzaam syndroom met een chromosomale anomalie als gevolg van een partiële trisomie van de lange arm van chromosoom 20, en heeft een zeer variabel fenotype dat voornamelijk gekarakteriseerd wordt door neurologische ontwikkelingsachterstand, hartmalformaties (e.g. ventrikelseptumdefect, coarctatie van de aorta) en faciale dysmorfie (incl. groot/hoog voorhoofd, microftalmie, opwaartse ooglidspleten, epicanthus, grote, lange, laagstaande oren, anteversie van de neusgaten, uitstekende bovenlip, gespleten lip/verhemelte, micro-/retrognathie, kuiltje in de kin). Skelet- (brachydactylie, scoliose, pectus excavatum (trechterborst)) en cerebrale anomalieën werden ook reeds gerapporteerd."},"pt":{"name":"Duplicação distal 20q","synonyms":["Duplicação telomérica 20q","Trissomia 20qter","Trissomia distal 20q"]},"pl":{"name":"Zespół duplikacji dystalnej 20q","synonyms":["Duplikacja dystalna 20q","Duplikacja telomerowa 20q","Trisomia 20qter"]},"cs":{"name":"Distální trizomie 20q","synonyms":["Distální duplikace 20q","Telomerická duplikace 20q","Trizomie 20qter"]},"uk":{"name":"Дистальна дуплікація 20q","synonyms":["Дистальна трисомія 20q","Теломерна дуплікація 20q","Трисомія 20qter"],"definition":"Distal trisomy 20q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 20, with high phenotypic variability mostly characterized by neurodevelopmental delay, cardiac malformations (e.g. ventricular septal defect, coarctation of aorta) and facial dysmorphism (incl. large/high forehead, microphthalmia, upslanting palpebral fissures, epicanthus, large, long, low-set ears, anteverted nares, protruding upper lip, cleft lip/palate, micro/retrognathia, dimpled chin). Skeletal (brachydactyly, scoliosis, pectus excavatum) and cerebral anomalies have also been reported."},"zh":{"name":"20号染色体长臂远端三体","synonyms":["20号染色体长臂端粒重复"],"definition":"20号染色体长臂远端三体是一种罕见的染色体异常综合征，由20号染色体长臂部分三体引起，表型高度多变，主要表现为神经发育迟缓、心脏畸形（如室间隔缺损、主动脉缩窄）和面部畸形（包括额头大/高、小眼畸形、上睑裂、内眦赘皮、大而长的低位耳、鼻尖上翘、上唇突出、唇/腭裂、小颌/下颌后缩畸形、颏裂）。骨骼异常（短指/趾畸形、脊柱侧凸、漏斗胸）和脑结构异常也有报道。"},"tr":{"name":"Distal trizomi 20q","synonyms":["Trizomi 20qter","Distal duplikasyon 20q","Telomerik duplikasyon 20q"]}},"xrefs":[{"source":"ICD-10","code":"Q92.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD41.K0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1614389503"},{"source":"MONDO","code":"0019888","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706935","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262995,"name":"Partial duplication of the long arm of chromosome 20 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[],"phenotypes":null}