{"orpha":96112,"name":"Non-distal duplication 9q syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Non-distal trisomy 9q","Non-telomeric trisomy 9q"],"definition":"Non-distal trisomy 9q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 9, with a highly variable phenotype principally characterized by developmental delay, short stature, intellectual disability, and craniofacial dysmorphism (e.g. microcephaly, broad forehead, low set ears, epicanthus, prominent nose, and retrognathia). Cardiac, ocular, thyroid and esophagus defects, as well as central nervous system and behavioral/psychiatric abnormalities, have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-96112/","orphanet_url":"https://www.orpha.net/en/disease/detail/96112","names":{"fr":{"name":"Syndrome de duplication non distale 9q","synonyms":["Duplication non télomérique 9q","Trisomie non distale 9q","Trisomie non télomérique 9q"],"definition":"Un syndrome d'anomalie chromosomique rare causé par la trisomie partielle du bras long du chromosome 9. Le phénotype est très variable et se caractérise principalement par un retard de développement, une petite taille, un déficit intellectuel et une dysmorphie craniofaciale (comme une microcéphalie, un front large, des oreilles implantées basses, un épicanthus, un nez proéminent et une rétrognathie). Des anomalies cardiaques, oculaires, thyroïdiennes et oesophagiennes ont aussi été rapportées, ainsi que des anomalies du système nerveux central et des troubles psychiatriques/du comportement."},"de":{"name":"Nicht-distale Duplikation 9q","synonyms":["Duplikation 9q, nicht-distale","Nicht-distale Trisomie 9q","Nicht-telomere Trisomie 9q"],"definition":"Die nicht-distale Trisomie 9q ist eine seltene Chromosomenanomalie, die aus einer partiellen Trisomie des langen Arms von Chromosom 9 resultiert und sich mit einem sehr variablen Phänotyp präsentiert, der hauptsächlich durch Entwicklungsverzögerung, Kleinwuchs, Intelligenzminderung und kraniofazialen Dysmorphismus (z.B. Mikrozephalie, breite Stirn, tief angesetzte Ohren, Epikanthus, prominente Nase und Retrognathie) gekennzeichnet ist. Es wurden auch Herz-, Augen-, Schilddrüsen- und Speiseröhrendefekte sowie Anomalien des zentralen Nervensystems beobachtet. Verhaltensprobleme und psychiatrische Störungen können assoziiert sein."},"es":{"name":"Síndrome de duplicación intersticial 9q","synonyms":["Trisomía intersticial 9q","Trisomía no terminal 9q"],"definition":"La trisomía intersticial 9q es un síndrome por anomalía cromosómica poco frecuente, resultante de la trisomía parcial del brazo largo del cromosoma 9, con un fenotipo muy variable caracterizado principalmente por retraso del desarrollo, talla baja, discapacidad intelectual y dismorfia craneofacial (p. ej., microcefalia, frente ancha, orejas de baja implantación, epicanto, nariz prominente y retrognatia). También se han descrito anomalías cardíacas, oculares, tiroideas y defectos esofágicos, así como anomalías del sistema nervioso central y alteraciones de conductuales/psiquiátricas."},"it":{"name":"Sindrome duplicazione 9q non distale","synonyms":["Trisomia 9q non distale","Trisomia 9q non telomerica"],"definition":"La trisomia 9q non distale è un'anomalia cromosomica rara, causata dalla trisomia parziale del braccio lungo del cromosoma 9. Il quadro clinico è molto variabile ed è prevalentemente caratterizzato da ritardo dello sviluppo, bassa statura, disabilità intellettiva e dismorfismi craniofacciali (microcefalia, fronte ampia, orecchie a basso impianto, epicanto, naso prominente e retrognazia). Sono stati descritti pazienti con cardiopatie, anomalie degli occhi, della tiroide e dell'esofago e disturbi psichiatrici e del comportamento."},"nl":{"name":"Niet-distale duplicatie 9q-syndroom","synonyms":["Niet-distale trisomie 9q","Niet-telomerische trisomie 9q"],"definition":"Niet-distale trisomie 9q is een zeldzaam syndroom met een chromosomale anomalie als gevolg van een partiële trisomie van de lange arm van chromosoom 9, en heeft een zeer variabel fenotype dat voornamelijk gekarakteriseerd wordt door ontwikkelingsachterstand, kleine gestalte, intellectuele achterstand, en craniofaciale dysmorfie (e.g. microcefalie, breed voorhoofd, laagstaande oren, epicanthus (amandelogen), uitgesproken neus, en retrognathie). Defecten van het hart, de ogen, de schildklier en de oesofagus, alsook afwijkingen van het centrale zenuwstelsel en gedrags-/psychiatrische afwijkingen, werden ook reeds gerapporteerd."},"pt":{"name":"Duplicação não-distal 9q","synonyms":["Trissomia não-distal 9q","Trissomia não-telomérica 9q"]},"pl":{"name":"Zespół nietelomerowej duplikacji 9q","synonyms":["Trisomia interstycjalna 9q","Duplikacja interstycjalna 9q","Nietelomerowa duplikacja 9q"]},"cs":{"name":"Non-distální trizomie 9q","synonyms":["Non-distální duplikace 9q","Non-telomerická trizomie 9q"]},"uk":{"name":"Недистальна дуплікація 9q","synonyms":["Недистальна трисомія 9q","Нетеломерна трисомія 9q"],"definition":"Non-distal trisomy 9q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 9, with a highly variable phenotype principally characterized by developmental delay, short stature, intellectual disability, and craniofacial dysmorphism (e.g. microcephaly, broad forehead, low set ears, epicanthus, prominent nose, and retrognathia). Cardiac, ocular, thyroid and esophagus defects, as well as central nervous system and behavioral/psychiatric abnormalities, have also been reported."},"zh":{"name":"9号染色体长臂非远端三体","synonyms":["9号染色体长臂非远端重复"],"definition":"9号染色体长臂非远端三体是一种罕见的染色体异常综合征，由9号染色体长臂部分三体综合征引起，具有高度多变的表型，主要表现为发育迟缓、身材矮小、智力障碍和颅面部畸形（如小头、宽额、低耳、内眦赘皮、鼻突出、下颌后缩畸形）。心脏、眼、甲状腺和食道缺陷，以及中枢神经系统和行为/精神异常也有报道。"},"tr":{"name":"Distal olmayan trizomi 9q","synonyms":["Telomerik olmayan trizomi 9q","Distal olmayan duplikasyon 9q"]}},"xrefs":[{"source":"ICD-10","code":"Q92.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD41.80","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1710421416"},{"source":"MONDO","code":"0019890","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707261","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262905,"name":"Partial duplication of the long arm of chromosome 9 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[],"phenotypes":null}