{"orpha":96094,"name":"Distal duplication 2q syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Distal trisomy 2q","Telomeric duplication 2q","Trisomy 2qter"],"definition":"Distal trisomy 2q is a rare chromosomal anomaly, resulting from the partial duplication of the long arm of chromosome 2, characterized by moderate psychomotor delay, mild intellectual disability, facial dysmorphism (high hairline, prominent forehead, hypertelorism, upslanting palpebral fissures, large, low-set and/or posteriorly rotated ears, depressed/broad nasal bridge, prominent nasal tip, thin upper lip vermillion), clino-/camptodactyly and normal or increased body measurements. On occasion genital anomalies (hypospadias, cryptorchidism, shawl scrotum) and short stature may be observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-96094/","orphanet_url":"https://www.orpha.net/en/disease/detail/96094","names":{"fr":{"name":"Syndrome de duplication distale 2q","synonyms":["Duplication 2qter","Duplication télomérique 2q","Trisomie 2qter","Trisomie distale 2q","Trisomie télomérique 2q"],"definition":"Une anomalie chromosomique rare causée par la duplication partielle du bras long du chromosome 2. Elle se caractérise par un retard psychomoteur modéré, un léger déficit intellectuel, une dysmorphie faciale (implantation haute des cheveux, front proéminent, hypertélorisme, fentes palpébrales obliques en haut et en dehors, oreilles larges, implantées basses et/ou en rotation postérieure, pont nasal déprimé/large, pointe nasale proéminente, vermillon supérieur fin), une clino-/camptodactylie, et des dimensions corporelles normales ou accrues. Des anomalies génitales (hypospadias, cryptorchidie, scrotum en châle) et une petite taille peuvent être observées."},"de":{"name":"Distale Duplikation 2q","synonyms":["Distale Trisomie 2q","Duplikation 2q, distale","Telomere Duplikation 2q","Trisomie 2qter"],"definition":"Die distale Trisomie 2q ist eine seltene Chromosomenanomalie, die aus einer partiellen Duplikation des langen Arms von Chromosom 2 resultiert. Sie ist gekennzeichnet durch eine moderate psychomotorische Verzögerung, eine leichte Intelligenzminderung, Gesichtsdysmorphie (hoher Haaransatz, prominente Stirn, Hypertelorismus, schräg nach oben verlaufende Lidspalten, große, tief angesetzte und/oder nach hinten gedrehte Ohren, vertiefter/breiter Nasenrücken, prominente Nasenspitze, dünne Oberlippe), Klino-/Kamptodaktylie und normale oder erhöhte Körpermaße. Gelegentlich können genitale Anomalien (Hypospadie, Kryptorchismus, Schalscrotum) und Kleinwuchs beobachtet werden."},"es":{"name":"Síndrome de duplicación terminal 2q","synonyms":["Trisomía 2qter","Trisomía terminal 2q"],"definition":"La trisomía distal 2q es una anomalía cromosómica rara, resultante de la duplicación parcial del brazo largo del cromosoma 2. Se caracteriza por retraso psicomotor moderado, discapacidad intelectual leve, dismorfia facial (línea de implantación del cabello alta, frente prominente, hipertelorismo, fisuras palpebrales inclinadas hacia arriba, orejas grandes, de implantación baja y/o rotadas posteriormente, puente nasal ancho y deprimido, punta nasal prominente, labio superior delgado), clino/camptodactilia y medidas corporales normales o aumentadas. En ocasiones se pueden observar anomalías genitales (hipospadias, criptorquidia, escroto en chal) y talla baja."},"it":{"name":"Sindrome duplicazione 2q distale","synonyms":["Trisomia 2q distale","Duplicazione 2q telomerica","Trisomia 2qter"],"definition":"La trisomia distale 2q è un'anomalia cromosomica rara causata dalla duplicazione parziale del braccio lungo del cromosoma 2. È caratterizzata da ritardo psicomotorio moderato, lieve disabilità intellettiva, dismorfismi facciali (impianto alto dei capelli, fronte prominente, ipertelorismo, rime palpebrali oblique verso l'alto, orecchie grandi, a basso impianto e/o ruotate posteriormente, sella nasale infossata/ampia, punta del naso prominente, porzione mucosa del labbro superiore sottile), clino-/campto-dattilia e parametri auxologici normali o aumentati. Raramente, sono presenti anomalie genitali (ipospadia, criptorchidismo, scroto a scialle) e bassa statura."},"nl":{"name":"Distale duplicatie 2q-syndroom","synonyms":["Distale trisomie 2q","Telomerische duplicatie 2q","Trisomie 2qter"],"definition":"Distale trisomie 2q is een zeldzame chromosomale anomalie als gevolg van een partiële duplicatie van de lange arm van chromosoom 2, dat gekarakteriseerd wordt door matige psychomotorische achterstand, milde intellectuele achterstand, faciale dysmorfie (hoge haarlijn, uitgesproken voorhoofd, hypertelorisme, opwaartse ooglidspleten, grote, laagstaande en/of naar achteren gedraaide oren, ingedrukte/brede neusbrug, uitgesproken neustip, dun vermiljoen van de bovenlip), clino-/camptodactylie en normale of toegenomen lichaamsafmetingen. Soms kunnen genitale anomalieën (hypospadieën, cryptorchidie, sjaalscrotum) en een kleine gestalte waargenomen worden."},"pt":{"name":"Duplicação distal 2q","synonyms":["Duplicação telomérica 2q","Trissomia 2qter","Trissomia distal 2q"]},"pl":{"name":"Zespół duplikacji dystalnej 2q","synonyms":["Duplikacja telomerowa 2q","Dystalna duplikacja 2q","Trisomia 2qter"]},"cs":{"name":"Distální trizomie 2q","synonyms":["Distální duplikace 2q","Telomerická duplikace 2q","Trizomie 2qter"]},"uk":{"name":"Дистальна дуплікація 2q","synonyms":["Дистальна трисомія 2q","Теломерна дуплікація 2q","Трисомія 2qter"],"definition":"Distal trisomy 2q is a rare chromosomal anomaly, resulting from the partial duplication of the long arm of chromosome 2, characterized by moderate psychomotor delay, mild intellectual disability, facial dysmorphism (high hairline, prominent forehead, hypertelorism, upslanting palpebral fissures, large, low-set and/or posteriorly rotated ears, depressed/broad nasal bridge, prominent nasal tip, thin upper lip vermillion), clino-/camptodactyly and normal or increased body measurements. On occasion genital anomalies (hypospadias, cryptorchidism, shawl scrotum) and short stature may be observed."},"zh":{"name":"2号染色体长臂远端三体","synonyms":["2号染色体长臂端粒重复"],"definition":"2号染色体长臂远端三体是一种罕见的染色体异常，由2号染色体长臂部分重复引起，其特征是中度精神运动迟缓、轻度智力障碍、面部畸形（发际高、前额突出、眼间距宽、上睑裂、大耳、低位和/或后旋耳，鼻梁凹陷/宽阔，鼻尖突出，上唇薄朱砂，指屈曲畸形，身体测量参数正常或增加。有时伴生殖器异常（尿道下裂、隐睾、披肩阴囊）和身材矮小。"},"tr":{"name":"Distal trizomi 2q","synonyms":["Trizomi 2qter","Distal duplikasyon 2q","Telomerik duplikasyon 2q"]}},"xrefs":[{"source":"ICD-10","code":"Q92.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0019877","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706361","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262842,"name":"Partial duplication of the long arm of chromosome 2 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[],"phenotypes":null}