{"orpha":96098,"name":"Distal duplication 6q syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Distal trisomy 6q","Telomeric duplication 6q","Trisomy 6qter"],"definition":"Distal trisomy 6q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 6, with highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, craniofacial dysmorphism (microcephaly, flat facial profile, frontal bossing, hypertelorism, downward-slanting palpebral fissures, flat nasal bridge, anteverted nares, bow shaped mouth, micrognathia), short webbed neck and joint contractures. Cardiac, urogenital, ophthalmologic and hand and foot anomalies, as well as umbilical hernia, spasticity, and seizures, are other features that have been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-96098/","orphanet_url":"https://www.orpha.net/en/disease/detail/96098","names":{"fr":{"name":"Syndrome de duplication distale 6q","synonyms":["Duplication 6qter","Duplication télomérique 6q","Trisomie 6qter","Trisomie distale 6q","Trisomie télomérique 6q"],"definition":"Un syndrome rare d'anomalie chromosomique causé par la duplication partielle du bras long du chromosome 6. Le phénotype est très variable et se caractérise habituellement par un retard de croissance et de développement, un déficit intellectuel, une dysmorphie craniofaciale (microcéphalie, visage plat, bosse frontale, hypertélorisme, fentes palpébrales obliques en bas et en dehors, pont nasal plat, narines antéversées, bouche en forme d'arc, micrognathie), un cou court et palmé, et des contractures articulaires. Des anomalies cardiaques, urogénitales, ophtalmologiques, et des anomalies affectant les mains et les pieds ont été rapportées, ainsi qu'une hernie ombilicale, une spasticité et des convulsions."},"de":{"name":"Distale Duplikation 6q","synonyms":["Distale Trisomie 6q","Duplikation 6q, distale","Telomere Duplikation 6q","Trisomie 6qter"],"definition":"Die distale Trisomie 6q ist eine seltene Chromosomenanomalie, die aus einer partiellen Duplikation des langen Arms von Chromosom 6 resultiert und einen sehr variablen Phänotyp aufweist. Typische Manifestationen sind Wachstums- und Entwicklungsverzögerung, Intelligenzminderung, kraniofaziale Dysmorphie (Mikrozephalie, flaches Gesichtsprofil, prominente Stirn, Hypertelorismus, nach unten geneigte Lidspalten, flacher Nasenrücken, antevertierte Nasenlöcher, bogenförmiger Mund, Mikrognathie), Pterygium colli, kurzer Nacken und Gelenkkontrakturen. Kardiale, urogenitale und ophthalmologische Anomalien, sowie Hand- und Fußfehlbildungen, Nabelbruch, Spastizität und Krampfanfälle sind weitere Merkmale, die assoziiert sein können."},"es":{"name":"Síndrome de duplicación terminal 6q","synonyms":["Trisomía 6qter","Trisomía terminal 6q"],"definition":"La trisomía terminal 6q es una anomalía cromosómica poco frecuente, que resulta de la duplicación parcial del brazo largo del cromosoma 6. Presenta un fenotipo muy variable, caracterizado típicamente por retraso del crecimiento y del desarrollo, discapacidad intelectual, dismorfia craneofacial (microcefalia, perfil facial plano, protuberancia frontal, hipertelorismo, fisuras palpebrales inclinadas hacia abajo, puente nasal plano, fosas nasales antevertidas, boca en arco de cupido, micrognatia), cuello corto con pterigium, y contracturas articulares. Otras características que se han descrito son anomalías cardíacas, urogenitales, oftalmológicas y de manos y pies, así como hernia umbilical, espasticidad y convulsiones."},"it":{"name":"Sindrome duplicazione 6q distale","synonyms":["Trisomia 6q distale","Duplicazione 6q telomerica","Trisomia 6qter"],"definition":"La trisomia distale 6q è un'anomalia cromosomica rara causata dalla duplicazione parziale del braccio lungo del cromosoma 6; il quadro clinico è molto variabile, di solito caratterizzato da ritardo della crescita e dello sviluppo, disabilità intellettiva, dismorfismi craniofacciali (microcefalia, profilo facciale appiattito, fronte bombata, ipertelorismo, rime palpebrali oblique verso il basso, sella nasale piatta, narici anteverse, bocca ad arco, micrognazia), collo corto e palmato e contratture articolari. Altri segni clinici sono le cardiopatie, le anomalie oculari, dell'apparato urogenitale, delle mani e dei piedi, l'ernia ombelicale, la spasticità e le crisi epilettiche."},"nl":{"name":"Distale duplicatie 6q-syndroom","synonyms":["Distale trisomie 6q","Telomerische duplicatie 6q","Trisomie 6qter"],"definition":"Distale trisomie 6q is een zeldzaam syndroom met een chromosomale anomalie als gevolg van een partiële duplicatie van de lange arm van chromosoom 6, met een hoogst variabel fenotype dat typisch gekarakteriseerd wordt door groei- en ontwikkelingsachterstand, intellectuele achterstand, craniofaciale dysmorfie (microcefalie, plat gelaatsprofiel, een boller voorhoofd, hypertelorisme, neerwaartse ooglidspleten, platte neusbrug, anteversie van de neusvleugels, boogvormige mond, micrognathie), korte nek/hals met huidplooien, en gewrichtscontracturen. Anomalieën van het hart, het urogenitale stelsel, het oog, en de handen en voeten, alsook navelbreuk, spasticiteit, en insulten, zijn andere kenmerken die reeds werden gerapporteerd."},"pt":{"name":"Duplicação distal 6q","synonyms":["Duplicação telomérica 6q","Trissomia 6qter","Trissomia distal 6q"]},"pl":{"name":"Zespół duplikacji dystalnej 6q","synonyms":["Duplikacja dystalna 6q","Duplikacja telomerowa 6q","Trisomia 6qter"]},"cs":{"name":"Distální trizomie 6q","synonyms":["Distální duplikace 6q","Telomerická duplikace 6q","Trizomie 6qter"]},"uk":{"name":"Дистальна дуплікація 6q","synonyms":["Дистальна трисомія 6q","Теломерна дуплікація 6q","Трисомія 6qter"],"definition":"Distal trisomy 6q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 6, with highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, craniofacial dysmorphism (microcephaly, flat facial profile, frontal bossing, hypertelorism, downward-slanting palpebral fissures, flat nasal bridge, anteverted nares, bow shaped mouth, micrognathia), short webbed neck and joint contractures. Cardiac, urogenital, ophthalmologic and hand and foot anomalies, as well as umbilical hernia, spasticity, and seizures, are other features that have been reported."},"zh":{"name":"6号染色体长臂远端三体","synonyms":["6号染色体长臂端粒重复"],"definition":"6号染色体长臂远端三体是一种罕见的染色体异常综合征，由6号染色体长臂部分重复引起，具有高度多变的表型，其典型特征是生长发育迟缓、智力障碍、颅面畸形（小头畸形、面部扁平、前额突出、眼间距宽、眼睑裂下斜、鼻梁扁平、鼻孔前倾、弓形嘴、小颌畸形）、短蹼颈和关节挛缩。其他已报道的表现有心脏、泌尿生殖系统、眼和手足异常，以及脐疝、痉挛和癫痫。"},"tr":{"name":"Distal trizomi 6q","synonyms":["Trizomi 6qter","Distal duplikasyon 6q","Telomerik duplikasyon 6q"]}},"xrefs":[{"source":"ICD-10","code":"Q92.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD41.50","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1498031626"},{"source":"MONDO","code":"0019881","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537810","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0795817","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262878,"name":"Partial duplication of the long arm of chromosome 6 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[],"phenotypes":null}