{"orpha":96072,"name":"4p16.3 microduplication syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Distal duplication 4p","Distal trisomy 4p","Telomeric duplication 4p","Trisomy 4pter"],"definition":"4p16.3 microduplication syndrome is a rare genetic syndrome that results from the partial duplication of the short arm of chromosome 4. It has a highly variable phenotype, principally characterized by psychomotor and language delay, seizures and dysmorphic features such as high forehead with frontal bossing, hypertelorism, prominent glabella, long narrow palpebral fissures, low set ears and short neck. Eye abnormalities (glaucoma, irregular iris pigmentation, hyperopia) have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-96072/","orphanet_url":"https://www.orpha.net/en/disease/detail/96072","names":{"fr":{"name":"Syndrome de microduplication 4p16.3","synonyms":["Trisomie 4pter","Trisomie distale 4p","Duplication distale 4p","Duplication télomérique 4p"],"definition":"Le syndrome de microduplication 4p16.3 est un syndrome génétique rare causé par la duplication partielle du bras court du chromosome 4. Son phénotype est très variable et se caractérise principalement par un retard psychomoteur, un retard de langage, des convulsions et une dysmorphie faciale incluant un front haut et une bosse frontale, un hypertélorisme, une glabelle proéminente, des fentes palpébrales longues et étroites, des oreilles implantées basses et un long cou. Des anomalies oculaires (glaucome, pigmentation irrégulière de l'iris, hyperopie) ont aussi été rapportées."},"de":{"name":"Mikroduplikationssyndrom 4p16.3","synonyms":["Duplikation 4p, distale","Telomere Duplikation 4p","Trisomie 4p, distale","Trisomie 4pter"],"definition":"Das Mikroduplikationssyndrom 4p16.3 ist ein seltenes genetisches Syndrom, das durch eine partielle Duplikation des kurzen Arms von Chromosom 4 entsteht. Es hat einen sehr variablen Phänotyp, der vor allem durch psychomotorische und sprachliche Verzögerungen, Krampfanfälle und dysmorphe Merkmale wie hohe Stirn mit frontalem Buckel, Hypertelorismus, prominente Glabella, lange schmale Lidspalten, tief angesetzte Ohren und kurzen Hals gekennzeichnet ist. Auch über Augenanomalien (Glaukom, irreguläre Irispigmentierung, Hyperopie) wurde berichtet."},"es":{"name":"Síndrome de microduplicación 4p16.3","synonyms":["Trisomía 4pter","Trisomía terminal 4p"],"definition":"El síndrome de microduplicación 4p16.3 es un síndrome genético poco frecuente que resulta de la duplicación parcial del brazo corto del cromosoma 4. Presenta un fenotipo altamente variable, caracterizado principalmente por retraso psicomotor y del lenguaje, convulsiones y rasgos dismórficos tales como frente alta con protuberancia frontal, hipertelorismo, entrecejo prominente, fisuras palpebrales largas y estrechas, orejas de implantación baja y cuello corto. Asimismo se han descrito anomalías oculares (glaucoma, pigmentación irregular del iris, hiperopía)."},"it":{"name":"Sindrome da microduplicazione 4p16.3","synonyms":["Duplicazione 4p distale","Duplicazione 4p telomerica","Trisomia 4p distale","Trisomia 4pter"],"definition":"La sindrome da microduplicazione 4p16.3 è una malattia genetica rara, causata dalla duplicazione parziale del braccio corto del cromosoma 4. Il quadro clinico è molto variabile ed è caratterizzato prevalentemente da ritardo psicomotorio e dell'acquisizione del linguaggio, crisi epilettiche e dismorfismi (fronte alta e bombata, ipertelorismo, glabella prominente, rime palpebrali lunghe e strette, orecchie a basso impianto e collo corto). Possono associarsi anomalie oculari (glaucoma, anomalie della pigmentazione dell'iride, iperopia)."},"nl":{"name":"4p16.3-microduplicatiesyndroom","synonyms":["Distale duplicatie 4p","Distale trisomie 4p","Telomerische duplicatie 4p","Trisomie 4pter"],"definition":"4p16.3 microduplicatiesyndroom is een zeldzaam genetisch syndroom dat veroorzaakt wordt door de partiële duplicatie van de korte arm van chromosoom 4. De ziekte heeft een zeer variabel fenotype, voornamelijk gekarakteriseerd door psychomotorische achterstand en taalachterstand, insulten en dysmorfe kenmerken zoals een hoog en boller voorhoofd, hypertelorisme, een prominente glabella, lange, smalle ooglidspleten, laagstaande oren en een korte hals. Oogafwijkingen (glaucoom, onregelmatige pigmentatie van de iris, hyperopie) werden ook reeds gerapporteerd."},"pt":{"name":"Síndrome de microduplicação 4p16.3","synonyms":["Trissomia distal 4p"]},"pl":{"name":"Zespół mikroduplikacji 4p16.3","synonyms":["Duplikacja dystalna 4p","Duplikacja telomerowa 4p","Trisomia 4pter","Trisomia dystalna 4p"]},"cs":{"name":"Mikroduplikační syndrom 4p16.3","synonyms":["Distální duplikace 4p","Distální trizomie 4p","Telomerická duplikace 4p","Trizomie 4pter"]},"uk":{"name":"Синдром мікродуплікації 4p16.3","synonyms":["Дистальна дуплікація 4p","Дистальна трисомія 4р","Теломерна дуплікація 4p","Трисомія 4pter"],"definition":"4p16.3 microduplication syndrome is a rare genetic syndrome that results from the partial duplication of the short arm of chromosome 4. It has a highly variable phenotype, principally characterized by psychomotor and language delay, seizures and dysmorphic features such as high forehead with frontal bossing, hypertelorism, prominent glabella, long narrow palpebral fissures, low set ears and short neck. Eye abnormalities (glaucoma, irregular iris pigmentation, hyperopia) have also been reported."},"zh":{"name":"4p16.3微重复综合征","synonyms":["4号染色体端粒重复"],"definition":"4p16.3微重复综合征是一种罕见的遗传综合征，由4号染色体短臂部分重复引起，具有高度多变的表型，主要特点是精神运动和语言迟缓、癫痫发作和路面畸形，如额头高而突出、眼间距过宽、眉间突出、眼睑裂狭长、低位耳和短脖。眼部异常（青光眼、虹膜色素沉着、远视）也有报道。"},"tr":{"name":"4p16.3 mikroduplikasyon sendromu","synonyms":["Trizomi 4pter","Distal trizomi 4p","Distal duplikasyon 4p","Telomerik duplikasyon 4p"]}},"xrefs":[{"source":"ICD-10","code":"Q92.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD41.31","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"104694717"},{"source":"MONDO","code":"0019873","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4512053","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":93461,"name":"Chromosomal disease with overgrowth","classifications":[147,156]},{"orpha":262716,"name":"Partial duplication of the short arm of chromosome 4 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":47.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}