{"orpha":96106,"name":"Distal duplication 16q syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Distal trisomy 16q","Telomeric duplication 16q","Trisomy 16qter"],"definition":"Distal trisomy 16q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 16, with variable phenotype principally characterized by developmental delay, severe intellectual disability, hypotonia, facial dysmorphism (incl. high, prominent forehead, epicanthic folds, dysplastic ears, broad/depressed nasal bridge, malar hypoplasia, narrow and arched palate, thin upper lip vermilion, micrognathia) and hand/feet anomalies (e.g. arachnodactyly, talipes equinovarus). Cardiac defects, genitourinary malformations and vertebral anomalies are also associated. Thrombocytopenia and recurrent infections have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-96106/","orphanet_url":"https://www.orpha.net/en/disease/detail/96106","names":{"fr":{"name":"Syndrome de duplication distale 16q","synonyms":["Duplication 16qter","Duplication télomérique 16q","Trisomie 16qter","Trisomie distale 16q","Trisomie télomérique 16q"],"definition":"Un syndrome rare d'anomalie chromosomique causé par la trisomie partielle du long bras du chromosome 16. Le phénotype est variable, et se caractérise principalement par un retard de développement, un déficit intellectuel sévère, une hypotonie, une dysmorphie faciale (incluant un front haut et proéminent, des plis épicanthiques, des oreilles dysplasiques, un pont nasal large/déprimé, une hypoplasie malaire, un palais étroit et arqué, un vermillon fin au niveau de la lèvre supérieure, une micrognathie), et des anomalies des mains/pieds (comme une arachnodactylie, des pieds bots varus équins). Des anomalies cardiaques ont aussi été associées, ainsi que des malformations génito-urinaires, des anomalies vertébrales, une thrombocytopénie et des infections récurrentes."},"de":{"name":"Distale Duplikation 16q","synonyms":["Distale Trisomie 16q","Duplikation 16q, distale","Telomere Duplikation 16q","Trisomie 16qter"],"definition":"Die distale Trisomie 16q ist eine seltene Chromosomenanomalie, die aus der partiellen Trisomie des langen Arms von Chromosom 16 resultiert und mit variablem Phänotyp einhergeht, der hauptsächlich durch Entwicklungsverzögerung, schwere Intelligenzminderung, Hypotonie, Gesichtsdysmorphien (hohe, prominente Stirn, Epikanthusfalten, dysplastische Ohren, breiter/abgesenkter Nasenrücken, Malarhypoplasie, schmaler und gewölbter Gaumen, dünner Oberlippenrand, Mikrognathie) und Hand-/Fußanomalien (z. B. Arachnodaktylie, Talipes equinovarus) gekennzeichnet ist. Herzfehler, Fehlbildungen der Urogenitalorgane und Wirbelsäulenanomalien können assoziiert sein. Thrombozytopenie und rezidivierende Infektionen sind ebenfalls dokumentiert."},"es":{"name":"Síndrome de duplicación terminal 16q","synonyms":["Trisomía 16qter","Trisomía terminal 16q"],"definition":"La trisomía terminal 16q es una anomalía cromosómica poco frecuente, que resulta de la trisomía parcial del brazo largo del cromosoma 16, con un fenotipo variable caracterizado principalmente por retraso del desarrollo, discapacidad intelectual grave, hipotonía, dismorfia facial (incluyendo frente prominente y alta, pliegues epicánticos, orejas displásicas, puente nasal ancho/deprimido, hipoplasia malar, paladar estrecho y arqueado, bermellón del labio superior delgado, micrognatia) y anomalías en las manos/pies (p. ej., aracnodactilia, pie equinovaro). También se asocian defectos cardíacos, malformaciones genitourinarias y anomalías vertebrales y se han descrito casos de trombocitopenia e infecciones recurrentes."},"it":{"name":"Sindrome duplicazione 16q distale","synonyms":["Duplicazione 16q telomerica","Trisomia 16qter","Trisomia 16q distale"],"definition":"La trisomia 16q distale è un'anomalia cromosomica rara causata dalla trisomia parziale del braccio lungo del cromosoma 16; il quadro clinico è variabile ed è caratterizzato prevalentemente da ritardo dello sviluppo, grave disabilità intellettiva, ipotonia, dismorfismi facciali (fronte alta e prominente, epicanto, orecchie displastiche, sella nasale ampia/infossata, ipoplasia malare, palato stretto e ogivale, porzione mucosa del labbro superiore sottile, micrognazia) ed anomalie delle mani e dei piedi (aracnodattilia, piedi equino-vari). Si associano cardiopatie, malformazioni dell'apparato genito-urinario e anomalie vertebrali. Sono stati descritti pazienti con trombocitopenia ed infezioni ricorrenti."},"nl":{"name":"Distale duplicatie 16q-syndroom","synonyms":["Distale trisomie 16q","Telomerische duplicatie 16q","Trisomie 16qter"],"definition":"Distale trisomie 16q is een zeldzaam syndroom met een chromosomale anomalie als gevolg van een partiële trisomie van de lange arm van chromosoom 16, en vertoont een variabel fenotype dat voornamelijk gekarakteriseerd wordt door ontwikkelingsachterstand, ernstige intellectuele achterstand, hypotonie, faciale dysmorfie (incl. hoog en uitgesproken voorhoofd, epicanthusplooien, dysplastische oren, brede/ingedrukte neusbrug, hypoplasie van de jukbeenderen, smal en gebogen verhemelte, dun vermiljoen aan de bovenlip, micrognathie) en anomalieën van handen/voeten (e.g. arachnodactylie, talipes equinovarus (klompvoet)). Hartdefecten, genito-urinaire malformaties en vertebrale anomalieën zijn ook geassocieerd. Trombocytopenie en terugkerende infecties werden ook reeds gerapporteerd."},"pt":{"name":"Duplicação distal 16q","synonyms":["Duplicação telomérica 16q","Trissomia 16qter","Trissomia distal 16q"]},"pl":{"name":"Zespół duplikacji dystalnej 16q","synonyms":["Duplikacja dystalna 16q","Duplikacja telomerowa 16q","Trisomia 16qter"]},"cs":{"name":"Distální trizomie 16q","synonyms":["Distální duplikace 16q","Telomerická duplikace 16q","Trizomie 16qter"]},"uk":{"name":"Дистальна дуплікація 16q","synonyms":["Дистальна трисомія 16q","Теломерна дуплікація 16q","Трисомія 16qter"],"definition":"Distal trisomy 16q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 16, with variable phenotype principally characterized by developmental delay, severe intellectual disability, hypotonia, facial dysmorphism (incl. high, prominent forehead, epicanthic folds, dysplastic ears, broad/depressed nasal bridge, malar hypoplasia, narrow and arched palate, thin upper lip vermilion, micrognathia) and hand/feet anomalies (e.g. arachnodactyly, talipes equinovarus). Cardiac defects, genitourinary malformations and vertebral anomalies are also associated. Thrombocytopenia and recurrent infections have also been reported."},"zh":{"name":"16号染色体长臂远端三体","synonyms":["16号染色体长臂端粒重复"],"definition":"16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16号染色体长臂部分三体引起，表型变异主要表现为发育迟缓、严重智障、张力减退、面部畸形（包括额头高而突出、内眦赘皮、耳发育不良、鼻梁宽/凹陷、颧骨发育不全、窄拱形腭、上唇红薄、小颌畸形）和手/足异常（如蜘蛛脚样指/趾、马蹄内翻足）。也可伴心脏缺陷、泌尿生殖系统畸形和脊椎畸形。血小板减少症和复发性感染也有报道。"},"tr":{"name":"Distal trizomi 16q","synonyms":["Trizomi 16qter","Distal duplikasyon 16q","Telomerik duplikasyon 16q"]}},"xrefs":[{"source":"ICD-10","code":"Q92.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD41.F0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"97221622"},{"source":"MONDO","code":"0019887","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706934","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262959,"name":"Partial duplication of the long arm of chromosome 16 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[],"phenotypes":null}