{"orpha":251076,"name":"8p23.1 duplication syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Dup(8)(p23.1p23.1)","Trisomy 8p23.1"],"definition":"8p23.1 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with a highly variable phenotype, principally characterized by mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (incl. prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-251076/","orphanet_url":"https://www.orpha.net/en/disease/detail/251076","names":{"fr":{"name":"Syndrome de duplication 8p23.1","synonyms":["Dup(8)(p23.1p23.1)","Trisomie 8p23.1"],"definition":"Un syndrome rare d'anomalie chromosomique causé par la duplication partielle du bras court du chromosome 8. Le phénotype est très variable, caractérisé principalement par un retard de développement léger à modéré, un déficit intellectuel, une légère dysmorphie faciale (incluant un front proéminent, des sourcils arqués, un large pont nasal, des narines antéversées, une fente labiale et/ou palatine) et des anomalies cardiaques congénitales (comme une communication atrioventriculaire). Les autres signes rapportés incluent une macrocéphalie, des troubles du comportement (comme un trouble du déficit de l'attention), des convulsions, une hypotonie, ainsi que des anomalies oculaires et digitales (poly-/syndactylie)."},"de":{"name":"Mikroduplikationssyndrom 8p23.1","synonyms":["Dup(8)(p23.1p23.1)","Trisomie 8p23.1"],"definition":"Das Mikroduplikationssyndrom 8p23.1 ist ein seltene Chromosomenanomalie, die aus der partiellen Duplikation des kurzen Arms von Chromosom 8 resultiert und einen sehr variablen Phänotyp aufweist. Das Syndrom manifestiert sich hauptsächlich durch eine leichte bis mäßige Entwicklungsverzögerung, eine Intelligenzminderung, leichte Gesichtsdysmorphien (inkl. prominenter Stirn, gewölbten Augenbrauen, breitem Nasenrücken, hochgezogenen Nasenlöchern, Lippen- und/oder Gaumenspalte) und angeborene Herzanomalien (z. B. atrioventrikulärer Septumdefekt). Zu den weiteren berichteten Merkmalen gehören Makrozephalie, Verhaltensanomalien (z. B. Aufmerksamkeitsdefizitstörung), Krampfanfälle, Hypotonie und okuläre und digitale Anomalien (Poly-/Syndaktylie)."},"es":{"name":"Síndrome de duplicación 8p23.1","synonyms":["Dup(8)(p23.1p23.1)","Trisomía 8p23.1"],"definition":"El síndrome de duplicación 8p23.1 es una anomalía cromosómica poco frecuente, que resulta de la duplicación parcial del brazo corto del cromosoma 8, con un fenotipo altamente variable, caracterizado principalmente por retraso del desarrollo de leve a moderado, discapacidad intelectual, dismorfia facial leve (incl. frente prominente, cejas arqueadas, puente nasal ancho, narinas antevertidas, labio leporino y/o paladar hendido) y anomalías cardíacas congénitas (p. ej., defecto septal atrioventricular). Otras características notificadas incluyen macrocefalia, anomalías conductuales (por ejemplo, trastorno por déficit de atención), convulsiones, hipotonía y anomalías oculares y digitales (poli/sindactilia)."},"it":{"name":"Sindrome da duplicazione 8p23.1","synonyms":["Dup(8)(p23.1p23.1)","Trisomia 8p23.1"],"definition":"La sindrome da duplicazione 8p23.1 è un'anomalia cromosomica rara causata dalla duplicazione parziale del braccio corto del cromosoma 8; il quadro clinico è molto variabile. Di solito è caratterizzato da ritardo dello sviluppo lieve o moderato, disabilità intellettiva, dismorfismi facciali sfumati (fronte prominente, sopracciglia arcuate, sella nasale ampia, narici rivolte vero l'alto, labioschisi e/o palatoschisi) e cardiopatie congenite (canale atrioventricolare). Altri segni clinici sono la macrocefalia, le anomalie del comportamento (deficit dell'attenzione), le crisi epilettiche, l'ipotonia e le anomalie degli occhi e delle dita (polidattilia/sindattilia)."},"nl":{"name":"8p23.1-duplicatiesyndroom","synonyms":["Dup(8)(p23.1)","Trisomie 8p23.1"],"definition":"8p23.1 duplicatiesyndroom is een zeldzaam syndroom met een chromosomale anomalie als gevolg van een partiële duplicatie van de korte arm van chromosoom 8, met een hoogst variabel fenotype dat voornamelijk gekarakteriseerd wordt door milde tot matige ontwikkelingsachterstand, intellectuele achterstand, milde faciale dysmorfie (incl. uitgesproken voorhoofd, gebogen wenkbrauwen, brede neusbrug, opengesperde neusvleugels, gespleten lip en/of verhemelte) en congenitale hartanomalieën (e.g., atrioventriculair septumdefect). Overige gerapporteerde kenmerken zijn onder meer macrocefalie, gedragsstoornissen (e.g. aandachtstekortstoornis), insulten, hypotonie en anomalieën van de ogen en de vingers/tenen (poly-/syndactylie)."},"pt":{"name":"Síndrome de microduplicação 8p23.1","synonyms":["Trissomia 8p23.1"]},"pl":{"name":"Zespół mikroduplikacji 8p23.1","synonyms":["Dup(8)(p23.1)","Trisomia 8p23.1"]},"cs":{"name":"Syndrom duplikace 8p23.1","synonyms":["Dup(8)(p23.1p23.1)","Trizomie 8p23.1"]},"uk":{"name":"Синдром дуплікації 8p23.1","synonyms":["Dup(8)(p23.1p23.1)","Трисомія 8p23.1"],"definition":"8p23.1 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with a highly variable phenotype, principally characterized by mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (incl. prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly)."},"zh":{"name":"染色体8p23.1重复综合征","synonyms":["8p23.1重复"],"definition":"8p23.1重复综合征是一种罕见的染色体异常综合征，由8号染色体短臂部分重复引起，表型变异较大，主要表现为轻度至中度发育迟缓、智力障碍、轻度面部畸形(如额头突出、眉毛拱形、鼻梁宽阔、鼻孔上翘、唇裂和/或腭裂)和先天性心脏畸形(如房室间隔缺损)。其他已报道的特征包括大头畸形、行为异常(如注意力缺陷障碍)、癫痫发作、肌张力低下以及眼和手指畸形(多指/并指)。"},"tr":{"name":"8p23.1 duplikasyon sendromu","synonyms":["Trizomi 8p23.1","Dup (8) (p23.1p23.1)"]}},"xrefs":[{"source":"ICD-10","code":"Q92.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD41.71","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1713215170"},{"source":"MONDO","code":"0016659","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707330","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10304","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262758,"name":"Partial duplication of the short arm of chromosome 8 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable","Unknown"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.72,"area":"Worldwide","status":"Validated","source":"23345203[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002553","label":"Highly arched eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002463","label":"Language impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000846","label":"Adrenal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100777","label":"Exostoses","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001642","label":"Pulmonic stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001636","label":"Tetralogy of Fallot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012471","label":"Thick vermilion border","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},{"hpo":"HP:0000445","label":"Wide nose","frequency":"Occasional (29-5%)","criteria":null}]}}