{"orpha":96074,"name":"Distal duplication 7p syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Distal trisomy 7p","Telomeric duplication 7p","Trisomy 7pter"],"definition":"Distal trisomy 7p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 7, with highly variable phenotype typically characterized by severe to profound psychomotor delay, intellectual disability, dysmorphic features (incl. dolichocephaly, microbrachycephaly, high and/or broad forehead, large anterior fontanel, hypertelorism, downslanting palpebral fissures, low-set, dysplastic ears, low, broad and prominent nasal bridge, abnormal palate, micro-/retrognathia), and hypotonia. Cardiovascular, gastrointestinal, skeletal and urogenital anomalies have commonly been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-96074/","orphanet_url":"https://www.orpha.net/en/disease/detail/96074","names":{"fr":{"name":"Syndrome de duplication distale 7p","synonyms":["Duplication 7pter","Duplication télomérique 7p","Trisomie 7pter","Trisomie distale 7p","Trisomie télomérique 7p"],"definition":"Un syndrome rare d'anomalie chromosomique causé par la duplication partielle du bras court du chromosome 7. Le phénotype est très variable et se caractérise classiquement par un retard psychomoteur sévère à profond, un déficit intellectuel, une dysmorphie faciale (incluant une dolicocéphalie, une microbrachycéphalie, un front haut et/ou large, une fontanelle antérieure large, un hypertélorisme, des fentes palpébrales obliques en bas et en dehors, des oreilles dysplasiques implantées basses, un pont nasal large et proéminent, un palais anormal, une micro-/rétrognathie), et une hypotonie. Des anomalies cardiovasculaires, gastro-intestinales, squelettiques et urogénitales ont été fréquemment rapportées."},"de":{"name":"Distale Duplikation 7p","synonyms":["Distale Trisomie 7p","Duplikation 7p, distale","Telomere Duplikation 7p","Trisomie 7pter"],"definition":"Die distale Trisomie 7p ist eine seltene Chromosomenanomalie, die aus einer partiellen Duplikation des kurzen Arms von Chromosom 7 resultiert und sich mit einem sehr variablen Phänotyp präsentiert. Das Syndrom manifestiert sich typischerweise durch eine schwere bis tiefgreifende psychomotorische Verzögerung, Intelligenzminderung, dysmorphe Merkmale (inkl. Dolichozephalie, Mikrobrachyzephalie, hohe und/oder breite Stirn, große vordere Fontanelle, Hypertelorismus, abfallende Lidspalten, tief angesetzte, dysplastische Ohren, niedriger, breiter und prominenter Nasenrücken, Gaumenanomalien, Mikro-/Retrognathie) und Hypotonie. Kardiovaskuläre, gastrointestinale, skelettale und urogenitale Anomalien wurden häufig berichtet."},"es":{"name":"Síndrome de duplicación terminal 7p","synonyms":["Trisomía 7pter","Trisomía terminal 7p"],"definition":"La trisomía terminal 7p es una anomalía cromosómica poco frecuente resultante de la duplicación parcial del brazo corto del cromosoma 7. Presenta un fenotipo altamente variable que se caracteriza típicamente por retraso psicomotor de grave a profundo, discapacidad intelectual, rasgos dismórficas (incluyendo dolicocefalia, microbraquicefalia, frente ancha y/o alta, fontanela anterior amplia, hipertelorismo, fisuras palpebrales descendentes, orejas displásicas de baja implantación, puente nasal bajo, ancho y prominente, paladar anómalo, micro- / retrognatia), e hipotonía. Comúnmente se han notificado anomalías cardiovasculares, gastrointestinales, esqueléticas y urogenitales."},"it":{"name":"Sindrome duplicazione 7p distale","synonyms":["Trisomia 7p distale","Duplicazione 7p telomerica","Trisomia 7pter"],"definition":"La trisomia 7p distale è un'anomalia cromosomica rara, causata dalla duplicazione parziale del braccio corto del cromosoma 7. Il quadro clinico è molto variabile, per lo più caratterizzato da ritardo psicomotorio grave o profondo, disabilità intellettiva, dismorfismi (dolicocefalia, microbrachicefalia, fronte alta e/o ampia, fontanella anteriore ampia, ipertelorismo, rime palpebrali oblique verso il basso, orecchie displastiche a basso impianto, sella nasale ampia e prominente, anomalie del palato, micro-/retrognazia) e ipotonia. Possono associarsi anomalie cardiovascolari, gastrointestinali, scheletriche e del tratto urogenitale."},"nl":{"name":"Distale duplicatie 7p-syndroom","synonyms":["Distale trisomie 7p","Telomerische duplicatie 7p","Trisomie 7pter"],"definition":"Distale trisomie 7p is een zeldzaam syndroom met een chromosomale anomalie als gevolg van een partiële duplicatie van de korte arm van chromosoom 7, met een hoogst variabel fenotype dat typisch gekarakteriseerd wordt door ernstige tot totale psychomotorische achterstand, intellectuele achterstand, dysmorfe kenmerken (incl. dolichocefalie, microbrachycefalie, hoog en/of breed voorhoofd, grote voorste fontanel, hypertelorisme, neerwaartse ooglidspleten, laagstaande en dysplastische oren, lage, brede en uitgesproken neusbrug, abnormaal verhemelte, micro-/retrognathie), en hypotonie. Cardiovasculaire, gastro-intestinale, skeletale en urogenitale anomalieën werden geregeld gerapporteerd."},"pt":{"name":"Duplicação distal 7p","synonyms":["Duplicação telomérica 7p","Trissomia 7pter","Trissomia distal 7p"]},"pl":{"name":"Zespół duplikacji dystalnej 7p","synonyms":["Duplikacja dystalna 7p","Duplikacja telomerowa 7p","Trisomia 7pter"]},"cs":{"name":"Distální trizomie 7p","synonyms":["Distální duplikace 7p","Telomerická duplikace 7p","Trizomie 7pter"]},"uk":{"name":"Дистальна дуплікація 7p","synonyms":["Дистальна трисомія 7р","Теломерна дуплікація 7p","Трисомія 7-ї хромосоми"],"definition":"Distal trisomy 7p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 7, with highly variable phenotype typically characterized by severe to profound psychomotor delay, intellectual disability, dysmorphic features (incl. dolichocephaly, microbrachycephaly, high and/or broad forehead, large anterior fontanel, hypertelorism, downslanting palpebral fissures, low-set, dysplastic ears, low, broad and prominent nasal bridge, abnormal palate, micro-/retrognathia), and hypotonia. Cardiovascular, gastrointestinal, skeletal and urogenital anomalies have commonly been reported."},"zh":{"name":"7号染色体短臂远端三体","synonyms":["7号染色体端粒重复"],"definition":"7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7号染色体短臂的部分重复引起，具有高度多变的表型，典型特征为重度到极重度的精神运动发育迟缓、智力障碍、颅面畸形（包括长头畸形、小头畸形、额头高和/或宽，前囟大、眼间距过宽、眼睑裂下斜、低位耳且发育不良、鼻梁低、宽、突出、腭异常，小颌/下颌后缩畸形）、肌张力减退。此外，心血管、胃肠道、骨骼和泌尿生殖系统异常常有报道。"},"tr":{"name":"Distal trizomi 7p","synonyms":["Trizomi 7pter","Distal duplikasyon 7p","Telomerik duplikasyon 7p"]}},"xrefs":[{"source":"ICD-10","code":"Q92.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD41.61","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1568766405"},{"source":"MONDO","code":"0019874","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706364","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262749,"name":"Partial duplication of the short arm of chromosome 7 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":40.0,"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}