{"orpha":96105,"name":"Distal duplication 13q syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Distal trisomy 13q","Telomeric duplication 13q","Trisomy 13qter"],"definition":"Distal trisomy 13q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 13, with variable phenotype principally characterized by intellectual disability, psychomotor delay, craniofacial dysmorphism (incl. microcephaly, bushy eyebrows, long curled eyelashes, hypotelorism, low-set ears, prominent nasal bridge, long philtrum, high palate, thin upper lip), short neck, polydactyly, and hemangiomas. Cardiac, urogenital and neural tube defects, as well as umbilical and inguinal hernias, seizures and hypotonia, have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-96105/","orphanet_url":"https://www.orpha.net/en/disease/detail/96105","names":{"fr":{"name":"Syndrome de duplication distale 13q","synonyms":["Trisomie télomérique 13q","Duplication 13qter","Duplication télomérique 13q","Trisomie 13qter","Trisomie distale 13q"],"definition":"Un syndrome d'anomalie chromosomique rare, causé par la duplication partielle du bras long du chromosome 13. Le phénotype est variable, et se caractérise principalement par un déficit intellectuel, un retard psychomoteur, une dysmorphie craniofaciale (incluant une microcéphalie, des sourcils broussailleux, de longs cils courbés, un hypotélorisme, des oreilles implantées basses, un pont nasal proéminent, un long philtrum, un palais haut, une lèvre supérieure fine), un cou court, une polydactylie et un hémangiome. Des anomalies cardiaques, urogénitales et du tube neural ont aussi été rapportées, ainsi qu'une hernie ombilicale et inguinale, des convulsions et une hypotonie."},"de":{"name":"Distale Duplikation 13q","synonyms":["Distale Trisomie 13q","Duplikation 13q, distale","Telomere Duplikation 13q","Trisomie 13qter"],"definition":"Die Distale Trisomie 13q ist eine seltene Chromosomenanomalie, die aus der partiellen Duplikation des langen Arms von Chromosom 13 resultiert und einen variablem Phänotyp aufweist. Die hauptsächlichen Merkmale sind Intelligenzminderung, psychomotorische Verzögerung, kraniofazialen Dysmorphien (incl. Mikrozephalie, buschige Augenbrauen, lange geschwungene Wimpern, Hypotelorismus, tief angesetzte Ohren, prominenter Nasenrücken, langes Philtrum, hoher Gaumen, dünne Oberlippe), kurzer Hals, Polydaktylie und Hämangiome. Es wurde auch über Herz-, Urogenital- und Neuralrohrdefekte sowie Nabel- und Leistenbrüche, Krampfanfälle und Hypotonie berichtet."},"es":{"name":"Síndrome de duplicación terminal 13q","synonyms":["Trisomía 13qter","Trisomía terminal 13q"],"definition":"La trisomía terminal 13q es una anomalía cromosómica poco frecuente resultante de la duplicación parcial del brazo largo del cromosoma 13, con un fenotipo variable caracterizado principalmente por discapacidad intelectual, retraso psicomotor, dismorfia craneofacial (incluyendo microcefalia, cejas pobladas, pestañas largas y rizadas, hipotelorismo, orejas de baja implantación, puente nasal prominente, surco nasolabial largo, paladar alto, labio superior delgado), cuello corto, polidactilia y hemangiomas. También se han descrito defectos cardíacos, urogenitales y del tubo neural, así como hernias umbilicales e inguinales, convulsiones e hipotonía."},"it":{"name":"Sindrome duplicazione 13q distale","synonyms":["Duplicazione 13q telomerica","Trisomia 13qter","Trisomia 13q distale"],"definition":"La trisomia 13q distale è un'anomalia cromosomica rara causata dalla duplicazione parziale del braccio lungo del cromosoma 13; il quadro clinico è variabile ed è prevalentemente caratterizzato da disabilità intellettiva, ritardo psicomotorio, dismorfismi craniofacciali (microcefalia, sopracciglia folte, ciglia lunghe arricciate, ipotelorismo, orecchie a basso impianto, sella nasale prominente, filtro allungato, palato ogivale, labbro superiore sottile), collo corto, polidattilia ed emangiomi. Possono associarsi cardiopatie, anomalie uro-genitali, difetti del tubo neurale, ernia ombelicale e inguinale, crisi epilettiche e ipotonia."},"nl":{"name":"Distale duplicatie 13q-syndroom","synonyms":["Distale trisomie 13q","Telomerische duplicatie 13q","Trisomie 13qter"],"definition":"Distale trisomie 13q is een zeldzaam syndroom met een chromosomale anomalie als gevolg van een partiële duplicatie van de lange arm van chromosoom 13, en vertoont een variabel fenotype dat voornamelijk gekarakteriseerd wordt door intellectuele achterstand, psychomotorische achterstand, craniofaciale dysmorfie (incl. microcefalie, volle wenkbrauwen, lange gekrulde wimpers, hypotelorisme, laagstaande oren, uitgesproken neusbrug, lang filtrum, hoog verhemelte, dunne bovenlip), korte nek/hals, polydactylie, en hemangiomen. Cardiale, urogenitale en neuralebuisdefecten, alsook navel- en liesbreuken, insulten en hypotonie, werden ook reeds gerapporteerd."},"pt":{"name":"Duplicação distal 13q","synonyms":["Duplicação telomérica 13q","Trissomia 13qter","Trissomia distal 13q"]},"pl":{"name":"Zespół duplikacji dystalnej 13q","synonyms":["Duplikacja dystalna 13q","Duplikacja telomerowa 13q","Trisomia 13qter"]},"cs":{"name":"Distální trizomie 13q","synonyms":["Distální duplikace 13q","Telomerická duplikace 13q","Trizomie 13qter"]},"uk":{"name":"Дистальна дуплікація 13q","synonyms":["Дистальна трисомія 13q","Теломерна дуплікація 13q","Трисомія 13qter"],"definition":"Distal trisomy 13q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 13, with variable phenotype principally characterized by intellectual disability, psychomotor delay, craniofacial dysmorphism (incl. microcephaly, bushy eyebrows, long curled eyelashes, hypotelorism, low-set ears, prominent nasal bridge, long philtrum, high palate, thin upper lip), short neck, polydactyly, and hemangiomas. Cardiac, urogenital and neural tube defects, as well as umbilical and inguinal hernias, seizures and hypotonia, have also been reported."},"zh":{"name":"13号染色体长臂远端三体","synonyms":["13号染色体长臂端粒重复"],"definition":"13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13号染色体长臂部分重复引起，其表型变异主要表现为智力障碍、精神运动迟缓、颅面畸形（包括小头畸形、眉毛浓密、睫毛长卷曲、眼间距窄、低位耳、鼻梁突出、人中长、高腭弓、上唇薄）、短颈、多指畸形、血管瘤。心脏，泌尿生殖和神经管缺陷，以及脐疝和腹股沟疝、癫痫和肌张力减退也有报道。"},"tr":{"name":"Distal trizomi 13q","synonyms":["Trizomi 13qter","Distal duplikasyon 13q","Telomerik duplikasyon 13q"]}},"xrefs":[{"source":"ICD-10","code":"Q92.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD41.C","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"574724724"},{"source":"MONDO","code":"0019886","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706933","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262932,"name":"Partial duplication of the long arm of chromosome 13 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[],"phenotypes":null}