{"orpha":96096,"name":"Distal duplication 4q syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Distal trisomy 4q","Telomeric duplication 4q","Trisomy 4qter"],"definition":"Distal trisomy 4q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 4, with highly variable phenotype typically characterized by psychomotor delay, intellectual disability, craniofacial dysmorphism (microcephaly, low-set, prominent ears, downslanting palpebral fissures, hypertelorism, epicanthic folds, broad, prominent nasal bridge, high arched and cleft palate, micro-/retrognathia), seizures, as well as tooth and digital anomalies (clinodactyly, polydactyly). Cardiac malformations, renal anomalies, cryptorchidism, hypotonia and hearing impairment have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-96096/","orphanet_url":"https://www.orpha.net/en/disease/detail/96096","names":{"fr":{"name":"Syndrome de duplication distale 4q","synonyms":["Duplication 4qter","Duplication télomérique 4q","Trisomie 4qter","Trisomie distale 4q","Trisomie télomérique 4q"],"definition":"Un syndrome d'anomalie chromosomique rare causé par la duplication partielle du bras long du chromosome 4. Le phénotype est très variable et se caractérise habituellement par un retard psychomoteur, un déficit intellectuel, une dysmorphie craniofaciale (microcéphalie, oreilles proéminentes, implantées basses, fentes palpébrales obliques en bas et en dehors, hypertélorisme, plis épicanthiques, pont nasal large et proéminent, fente palatine et palais ogival, micro-/rétrognathie), des convulsions, ainsi que des anomalies dentaires et digitales (clinodactylie, polydactylie). Des malformations cardiaques, des anomalies rénales, une cryptorchidie, une hypotonie et une atteinte auditive ont aussi été rapportées."},"de":{"name":"Distale Duplikation 4q","synonyms":["Distale Trisomie 4q","Duplikation 4q, distale","Telomere Duplikation 4q","Trisomie 4qter"],"definition":"Die distale Trisomie 4q ist eine seltene Chromosomenanomalie, die aus einer partiellen Duplikation des langen Arms von Chromosom 4 resultiert und einen sehr variablen Phänotyp aufweist. Das Syndrom ist typischerweise gekennzeichnet durch psychomotorische Verzögerung, Intelligenzminderung, kraniofaziale Dysmorphie (Mikrozephalie, tief angesetzte, abstehende Ohren, abfallende Lidspalten, Hypertelorismus, Epikanthusfalten, breiter, prominenter Nasenrücken, hoher und gespaltener Gaumen, Mikro-/Retrognathie), Krampfanfälle, sowie Zahn-, Finger- und Zehenanomalien (Klinodaktylie, Polydaktylie). Auch über kardiale Fehlbildungen, Nierenanomalien, Kryptorchismus, Hypotonie und Hörstörungen wurde berichtet."},"es":{"name":"Síndrome de duplicación terminal 4q","synonyms":["Trisomía 4qter","Trisomía terminal 4q"],"definition":"La trisomía terminal 4q es una anomalía cromosómica poco frecuente, resultante de la duplicación parcial del brazo largo del cromosoma 4. Presenta un fenotipo muy variable caracterizado por retraso psicomotor, discapacidad intelectual, dismorfia craneofacial (microcefalia, orejas prominentes de baja implantación, fisuras palpebrales inclinadas hacia abajo, hipertelorismo, pliegues epicánticos, puente nasal ancho y prominente, paladar alto, arqueado y hendido, micro/ retrognatia), convulsiones, así como anomalías dentales y digitales (clinodactilia, polidactilia). También se han reportado malformaciones cardíacas, anomalías renales, criptorquidia, hipotonía y deficiencia auditiva."},"it":{"name":"Sindrome duplicazione 4q distale","synonyms":["Trisomia 4q distale","Duplicazione 4q telomerica","Trisomia 4qter"],"definition":"La trisomia distale 4q è un'anomalia cromosomica rara causata dalla duplicazione parziale del braccio lungo del cromosoma 4. Il quadro clinico è variabile; di solito è caratterizzato da ritardo psicomotorio, disabilità intellettiva, dismorfismi craniofacciali (microcefalia, orecchie prominenti a basso impianto, rime palpebrali oblique verso il basso, ipertelorismo, epicanto, sella nasale ampia e prominente, palatoschisi e palato ogivale, micro-/retro-gnazia), crisi epilettiche e anomalie dei denti e delle dita (clinodattilia, polidattilia). Possono associarsi cardiopatie, anomalie renali, criptorchidismo, ipotonia e compromissione dell'udito."},"nl":{"name":"Distale duplicatie 4q-syndroom","synonyms":["Distale trisomie 4q","Telomerische duplicatie 4q","Trisomie 4qter"],"definition":"Distale trisomie 4q is een zeldzaam syndroom met een chromosomale anomalie als gevolg van een partiële duplicatie van de lange arm van chromosoom 4, met een hoogst variabel fenotype dat typisch gekarakteriseerd wordt door psychomotorische achterstand, intellectuele achterstand, craniofaciale dysmorfie (microcefalie, laagstaande en uitgesproken oren, neerwaartse ooglidspleten, hypertelorisme, epicanthusplooien, brede en uitgesproken neusbrug, hoog gebogen en gespleten verhemelte, micro-/retrognathie), insulten, alsook tand- en vinger-/teenanomalieën (clinodactylie, polydactylie). Hartmalformaties, nieranomalieën, cryptorchidie, hypotonie gehoorstoornis werden ook reeds gerapporteerd."},"pt":{"name":"Duplicação distal 4q","synonyms":["Duplicação telomérica 4q","Trissomia 4qter","Trissomia distal 4q"]},"pl":{"name":"Zespół duplikacji dystalnej 4q","synonyms":["Duplikacja dystalna 4q","Duplikacja telomerowa 4q","Trisomia 4qter"]},"cs":{"name":"Distální trizomie 4q","synonyms":["Distální duplikace 4q","Telomerická duplikace 4q","Trizomie 4qter"]},"uk":{"name":"Дистальна дуплікація 4q","synonyms":["Дистальна трисомія 4q","Теломерна дуплікація 4q","Трисомія 4qter"],"definition":"Distal trisomy 4q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 4, with highly variable phenotype typically characterized by psychomotor delay, intellectual disability, craniofacial dysmorphism (microcephaly, low-set, prominent ears, downslanting palpebral fissures, hypertelorism, epicanthic folds, broad, prominent nasal bridge, high arched and cleft palate, micro-/retrognathia), seizures, as well as tooth and digital anomalies (clinodactyly, polydactyly). Cardiac malformations, renal anomalies, cryptorchidism, hypotonia and hearing impairment have also been reported."},"zh":{"name":"4号染色体长臂远端三体","synonyms":["4号染色体长臂端粒重复"],"definition":"4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4号染色体长臂部分重复引起，具有高度多变的表型，其典型特征是精神运动迟缓、智力障碍、颅面畸形（小头畸形、低位招风耳、眼睑裂下斜、眼间距宽、内眦赘皮、宽而突出的鼻梁、高腭弓、小颌/下颌后缩畸形、癫痫以及牙齿和手指异常（指/趾侧弯畸形、多指/趾）。心脏畸形、肾脏异常、隐睾、肌张力减退和听力受损也有报道。"},"tr":{"name":"Distal trizomi 4q","synonyms":["Trizomi 4qter","Distal duplikasyon 4q","Telomerik duplikasyon 4q"]}},"xrefs":[{"source":"ICD-10","code":"Q92.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD41.30","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"392258046"},{"source":"MONDO","code":"0019879","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706362","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262860,"name":"Partial duplication of the long arm of chromosome 4 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[],"phenotypes":null}