{"orpha":96070,"name":"Distal duplication 2p syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Trisomy 2pter","Distal trisomy 2p","Telomeric duplication 2p"],"definition":"Distal trisomy 2p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 2, with a highly variable phenotype principally characterized by pre- and post-natal growth failure, global developmental delay, facial dysmorphism (incl. high forehead/frontal bossing, abnormal ear shape and/or position, hypertelorism/telecanthus, broad/depressed nasal bridge) and ocular anomalies (e.g. exophthalmos, retinal hypopigmentation, optic nerve and foveal hypoplasia). Other reported anomalies include generalized hypotonia, pectus excavatum, long fingers and toes, syndactyly, congenital heart (e.g. ventricular and atrial septal defects) and neural tube defects, seizures, pulmonary hypoplasia, diaphragmatic hernia and urogenital anomalies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-96070/","orphanet_url":"https://www.orpha.net/en/disease/detail/96070","names":{"fr":{"name":"Syndrome de duplication distale 2p","synonyms":["Duplication 2pter","Duplication télomérique 2p","Trisomie 2pter","Trisomie distale 2p","Trisomie télomérique 2p"],"definition":"Un syndrome rare d'anomalie chromosomique causé par la duplication partielle du bras court du chromosome 2. Le phénotype est très variable, et est principalement caractérisé par un retard de croissance pré- et post-natale, un retard de développement global, une dysmorphie faciale (incluant un front haut/une bosse frontale, des oreilles de forme et/ou de position anormale, un hypertélorisme/télécanthus, un pont nasal large/déprimé), et des anomalies oculaires (comme une exophtalmie, une hypopigmentation rétinienne, et une hypoplasie du nerf optique et de la fovéa). Les autres anomalies rapportées incluent une hypotonie généralisée, un pectus excavatum, de longs doigts et orteils, une syndactylie, des anomalies congénitales cardiaques (communication auriculoventriculaire) et du tube neural, des convulsions, une hypoplasie pulmonaire, une hernie diaphragmatique et des anomalies urogénitales."},"de":{"name":"Distale Duplikation 2p","synonyms":["Distale Trisomie 2p","Duplikation 2p, distale","Telomere Duplikation 2p","Trisomie 2pter"],"definition":"Die distale Trisomie 2p ist eine seltene Chromosomenanomalie, die aus einer partiellen Duplikation des kurzen Arms von Chromosom 2 resultiert und einen sehr variablen Phänotyp aufweist. Die hauptsächlichen Manifestationen sind prä- und postnatale Wachstumsstörungen, globale Entwicklungsverzögerung, Gesichtsdysmorphien (hohe/prominente Stirn, abnorme Ohrform und/oder -position, Hypertelorismus/Telekanthus, breiter/abgesenkter Nasenrücken) und okuläre Anomalien (z. B. Exophthalmus, Hypopigmentierung der Netzhaut, Hypoplasie des Sehnervs und der Fovea). Zu den weiteren berichteten Merkmalen gehören generalisierte Hypotonie, Pectus excavatum, lange Finger und Zehen, Syndaktylie, kongenitale Herzfehler (z. B. ventrikuläre und atriale Septumdefekte) ausserdem Neuralrohrdefekte, Krampfanfälle, pulmonale Hypoplasie, Zwerchfellhernie und urogenitale Anomalien."},"es":{"name":"Síndrome de duplicación terminal 2p","synonyms":["Trisomía 2pter","Trisomía terminal 2p"],"definition":"La trisomía terminal 2p es un síndrome poco frecuente de anomalías cromosómicas, que resulta de la duplicación parcial del brazo corto del cromosoma 2, con un fenotipo altamente variable caracterizado principalmente por un fallo del crecimiento pre- y postnatal, retraso global del desarrollo, dismorfia facial (incl. frente alta/prominente, forma y/o posición anómalas del oído, hipertelorismo/telecanto, puente nasal ancho/deprimido) y anomalías oculares (p. ej., exoftalmos, hipopigmentación de la retina, hipoplasia foveal y de nervio óptico). Otras anomalías notificadas incluyen hipotonía generalizada, pectus excavatum, dedos de las manos y de los pies largos, sindactilia, defectos cardíacos congénitos (por ejemplo, defecto septal auricular y ventricular) y defectos del tubo neural, convulsiones, hipoplasia pulmonar, hernia diafragmática y anomalías urogenitales."},"it":{"name":"Sindrome duplicazione 2p distale","synonyms":["Trisomia 2p distale","Duplicazione 2p telomerica","Trisomia 2pter"],"definition":"La trisomia 2p distale è un'anomalia cromosomica rara, causata dalla duplicazione parziale del braccio corto del cromosoma 2. Il quadro clinico è molto variabile ed è prevalentemente caratterizzato da ritardo della crescita pre- e postnatale, ritardo dello sviluppo globale, dismorfismi facciali (fronte alta/bombata, anomalie dalla forma e/o posizione delle orecchie, ipertelorismo/telecanto, sella nasale ampia/infossata) e anomalie oculari (esoftalmo, ipopigmentazione retinica, ipoplasia del nervo ottico e della fovea). Altri segni clinici sono l'ipotonia generalizzata, il pectus excavatum, l'allungamento delle dita delle mani e dei piedi, la sindattilia, le cardiopatie (difetto del setto interventricolare e interatriale), i difetti del tubo neurale, le crisi epilettiche, l'ipoplasia dei polmoni, l'ernia diaframmatica e le anomalie urogenitali."},"nl":{"name":"Distale duplicatie 2p-syndroom","synonyms":["Distale trisomie 2p","Telomerische duplicatie 2p","Trisomie 2pter"],"definition":"Distale trisomie 2p is een zeldzaam syndroom met een chromosomale anomalie als gevolg van een partiële duplicatie van de korte arm van chromosoom 2, en vertoont een zeer variabel fenotype dat voornamelijk gekarakteriseerd wordt door pre- en postnataal groeifalen, algemene ontwikkelingsachterstand, faciale dysmorfie (incl. hoog voorhoofd/boller voorhoofd, abnormale vorm en/of positie van de oren, hypertelorisme/telecanthus, brede/ingedrukte neusbrug) en oculaire anomalieën (e.g. exoftalmie, hypopigmentatie van het netvlies, hypoplasie van de gezichtszenuw en foveale hypoplasie). Overige gerapporteerde anomalieën zijn onder meer gegeneraliseerde hypotonie, pectus excavatum (trechterborst), lange vingers en tenen, syndactylie, congenitale hart- (e.g. ventrikel- en atriumseptumdefecten) en neuralebuisdefecten, insulten, pulmonale hypoplasie, diafragmatische hernia en urogenitale anomalieën."},"pt":{"name":"Duplicação distal 2p","synonyms":["Duplicação telomérica 2p","Trissomia 2pter","Trissomia distal 2p"]},"pl":{"name":"Zespół duplikacji dystalnej 2p","synonyms":["Duplikacja dystalna 2p","Duplikacja telomerowa 2p","Trisomia 2pter"]},"cs":{"name":"Distální trizomie 2p","synonyms":["Distální duplikace 2p","Telomerická duplikace 2p","Trizomie 2pter"]},"uk":{"name":"Дистальна дуплікація 2p","synonyms":["Дистальна трисомія 2р","Теломерна дуплікація 2p","Трисомія 2pter"],"definition":"Distal trisomy 2p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 2, with a highly variable phenotype principally characterized by pre- and post-natal growth failure, global developmental delay, facial dysmorphism (incl. high forehead/frontal bossing, abnormal ear shape and/or position, hypertelorism/telecanthus, broad/depressed nasal bridge) and ocular anomalies (e.g. exophthalmos, retinal hypopigmentation, optic nerve and foveal hypoplasia). Other reported anomalies include generalized hypotonia, pectus excavatum, long fingers and toes, syndactyly, congenital heart (e.g. ventricular and atrial septal defects) and neural tube defects, seizures, pulmonary hypoplasia, diaphragmatic hernia and urogenital anomalies."},"zh":{"name":"2号染色体短臂远端三体","synonyms":["2号染色体端粒重复"],"definition":"2号染色体短臂远端三体是一种罕见的染色体异常综合征，由2号染色体短臂部分重复引起，具有高度多变的表型，主要特征为产前和产后生长不良、全面发育迟缓、面部畸形（包括前额突出、耳朵形状和/或位置异常、高度近视/远视、鼻梁宽/凹陷）和眼部异常（如眼球突出、视网膜色素减退、视神经和中央凹发育不全）。其他报告的表现包括全身肌张力减退、漏斗胸、长手指和脚趾、并指畸形、先天性心脏病（如室间隔和房间隔缺损）和神经管缺陷、癫痫、肺发育不良、膈疝和泌尿生殖系统异常。"},"tr":{"name":"Distal trizomi 2p","synonyms":["Trizomi 2pter","Distal duplikasyon 2p","Telomerik duplikasyon 2p"]}},"xrefs":[{"source":"ICD-10","code":"Q92.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD41.11","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1697660161"},{"source":"MONDO","code":"0019871","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706937","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98642,"name":"Chromosomal anomaly with cataract","classifications":[156,189]},{"orpha":262698,"name":"Partial duplication of the short arm of chromosome 2 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":20.0,"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}