{"orpha":96101,"name":"Distal duplication 9q syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Distal trisomy 9q","Telomeric duplication 9q","Trisomy 9qter"],"definition":"Distal trisomy 9q is a rare chromosomal anomaly, resulting from the partial trisomy of the long arm of chromosome 9, with a variable phenotype mostly characterized by psychomotor and speech delay, intellectual disability, hypotonia, long narrow habitus, craniofacial dysmorphism (incl. micro/dolichocephaly, facial asymmetry, narrow palpebral fissures, deep-set eyes, strabismus, microphthalmia, abnormally shaped ears, microstomia, micro/retrognathia) and hand and feet anomalies (incl. arachnodactyly, camptodactyly, abnormal implantation of digits). Congenital flexion contractures and limited joint movements have also been observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-96101/","orphanet_url":"https://www.orpha.net/en/disease/detail/96101","names":{"fr":{"name":"Syndrome de duplication distale 9q","synonyms":["Duplication 9qter","Duplication télomérique 9q","Trisomie 9qter","Trisomie distale 9q","Trisomie télomérique 9q"],"definition":"Une anomalie chromosomique rare causée par la trisomie partielle du bras long du chromosome 9. Le phénotype est variable et est surtout caractérisé par un retard psychomoteur et de la parole, un déficit intellectuel, une hypotonie, un habitus long et étroit, une dysmorphie craniofaciale (incluant une micro-/dolichocéphalie, une asymétrie faciale, des fentes palpébrales étroites, des yeux profondément implantés, un strabisme, une microphtalmie, des oreilles de forme anormale, une microstomie, une micro-/rétrognathie), et des anomalies des mains et des pieds (incluant une arachnodactylie, une camptodactylie, une implantation anormale des doigts). Des contractures congénitales en flexion et une limitation des mouvements articulaires ont aussi été observées."},"de":{"name":"Distale Duplikation 9q","synonyms":["Distale Trisomie 9q","Duplikation 9q, distale","Telomere Duplikation 9q","Trisomie 9qter"],"definition":"Die distale Trisomie 9q ist eine seltene Chromosomenanomalie, die aus einer partiellen Trisomie des langen Arms von Chromosom 9 resultiert und einen variablen Phänotyp aufweist. Charakteristische Merkmale sind psychomotorische und sprachliche Verzögerung, Intelligenzminderung, Hypotonie, langer schmaler Habitus, kraniofaziale Dysmorphien (inkl. Mikro-/Dolichozephalie, Gesichtsasymmetrie, enge Lidspalten, tiefliegende Augen, Strabismus, Mikrophthalmie, abnorm geformte Ohren, Mikrostomie, Mikro-/Retrognathie) und Hand- und Fußanomalien (inkl. Arachnodaktylie, Camptodaktylie, abnormale Implantation von Zehen). Angeborene Flexionskontrakturen und eingeschränkte Gelenkbewegungen wurden ebenfalls beobachtet."},"es":{"name":"Síndrome de duplicación terminal 9q","synonyms":["Trisomía 9qter","Trisomía terminal 9q"],"definition":"La trisomía terminal 9q es una anomalía cromosómica poco frecuente, resultante de la trisomía parcial del brazo largo del cromosoma 9, con un fenotipo variable caracterizado principalmente por retraso psicomotor y del habla, discapacidad intelectual, hipotonía, constitución física delgada y alargada, dismorfia craneofacial (incluye micro/dolicocefalia, asimetría facial, fisuras palpebrales estrechas, ojos hundidos, estrabismo, microftalmía, orejas con formas anómalas, microstomia, micro/retrognatia) y anomalías en manos y pies (que incluyen aracnodactilia, camptodactilia, implantación anómala de dígitos). También se han observado contracturas congénitas de flexión y movimientos articulares limitados."},"it":{"name":"Duplicazione 9q distale","synonyms":["Trisomia 9q distale","Duplicazione 9q telomerica","Trisomia 9qter"],"definition":"La trisomia 9q distale è un'anomalia cromosomica rara causata dalla trisomia parziale del braccio lungo del cromosoma 9; il quadro clinico è variabile ed è prevalentemente caratterizzato da ritardo psicomotorio e del linguaggio, disabilità intellettiva, ipotonia, habitus lungo e stretto, dismorfismi craniofacciali (micro/dolicocefalia, asimmetria del viso, rime palpebrali strette, occhi infossati, strabismo, microftalmia, anomalie della forma dell'orecchio, microstomia, micro/retrognazia) e anomalie delle mani e dei piedi (aracnodattilia, camptodattilia, anomalie di impianto delle dita). Possono associarsi contratture congenite in flessione e limitazioni dei movimenti articolari."},"nl":{"name":"Distale duplicatie 9q-syndroom","synonyms":["Distale trisomie 9q","Telomerische duplicatie 9q","Trisomie 9qter"],"definition":"Distale trisomie 9q is een zeldzame chromosomale anomalie als gevolg van partiële trisomie van de lange arm van chromosoom 9, en vertoont een variabel fenotype dat voornamelijk gekarakteriseerd wordt door psychomotorische en spraakachterstand, intellectuele achterstand, hypotonie, lang en smal voorkomen, craniofaciale dysmorfie (incl. micro-/dolichocefalie, faciale asymmetrie, smalle ooglidspleten, diepliggende ogen, strabisme, microftalmie, abnormaal gevormde oren, microstomie, micro-/retrognathie), en hand- en voetanomalieën (incl. arachnodactylie, camptodactylie, abnormale inplanting van vingers/tenen). Congenitale flexiecontracturen en beperkte gewrichtsbewegingen werden ook reeds waargenomen."},"pt":{"name":"Duplicação distal 9q","synonyms":["Duplicação telomérica 9q","Trissomia 9qter","Trissomia distal 9q"]},"pl":{"name":"Zespół duplikacji dystalnej 9q","synonyms":["Duplikacja dystalna 9q","Duplikacja telomerowa 9q","Trisomia 9qter"]},"cs":{"name":"Distální trizomie 9q","synonyms":["Distální duplikace 9q","Telomerická duplikace 9q","Trizomie 9qter"]},"uk":{"name":"Дистальна дуплікація 9q","synonyms":["Дистальна трисомія 9q","Теломерна дуплікація 9q","Трисомія 9qter"],"definition":"Distal trisomy 9q is a rare chromosomal anomaly, resulting from the partial trisomy of the long arm of chromosome 9, with a variable phenotype mostly characterized by psychomotor and speech delay, intellectual disability, hypotonia, long narrow habitus, craniofacial dysmorphism (incl. micro/dolichocephaly, facial asymmetry, narrow palpebral fissures, deep-set eyes, strabismus, microphthalmia, abnormally shaped ears, microstomia, micro/retrognathia) and hand and feet anomalies (incl. arachnodactyly, camptodactyly, abnormal implantation of digits). Congenital flexion contractures and limited joint movements have also been observed."},"zh":{"name":"9号染色体长臂远端三体","synonyms":["9号染色体长臂端粒重复"],"definition":"9号染色体长臂远端三体是一种罕见的染色体异常，由9号染色体长臂的部分三体引起，其表型多变，主要表现为精神运动和言语发育迟缓、智力障碍、肌张力减退、体形修长、颅面畸形（包括小头/长头畸形、面部不对称、眼睑裂狭窄、眼窝深陷、斜视、小眼畸形、耳朵形状异常、小口畸形、小颌/下颌后缩畸形以及手足畸形（包括蜘蛛脚样指/趾、指/趾屈曲畸形、指/趾位置异常）。也可伴先天性关节屈曲挛缩和关节活动受限。"},"tr":{"name":"Distal trizomi 9q","synonyms":["Trizomi 9qter","Distal duplikasyon 9q","Telomerik 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":"1755415115"},{"source":"MONDO","code":"0019883","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706939","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":["Antenatal","Neonatal"],"prevalence":[],"phenotypes":null}