{"orpha":96078,"name":"16p13.3 microduplication syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Distal duplication 16p","Distal trisomy 16p","Dup(16)(p13.3)","Telomeric duplication 16p","Trisomy 16pter"],"definition":"16p13.3 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 and manifesting with a variable phenotype which is mostly characterized by: mild to moderate intellectual deficit and developmental delay (particularly speech), normal growth, short, proximally implanted thumbs and other hand and feet malformations (such as camptodactyly, syndactyly, club feet), mild arthrogryposis and characteristic facies (upslanting, narrow palpebral fissures, hypertelorism, mid face hypoplasia, bulbous nasal tip and low set ears). Other reported manifestations include cryptorchidism, inguinal hernia and behavioral problems.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-96078/","orphanet_url":"https://www.orpha.net/en/disease/detail/96078","names":{"fr":{"name":"Syndrome de microduplication 16p13.3","synonyms":["Dup(16)(p13.3)","Duplication distale 16p","Duplication télomérique 16p","Trisomie 16pter","Trisomie distale 16p"],"definition":"Le syndrome de microduplication 16p13.3 est un syndrome d'anomalie chromosomique rare résultant de la duplication partielle du bras court du chromosome 16. Il se manifeste par un phénotype variable, caractérisé le plus souvent par un déficit intellectuel léger à modéré, un retard de développement (surtout de la parole), une croissance normale, des pouces courts, implantés de manière proximale, d'autres malformations des mains et des pieds (camptodactylie, syndactylie, pied bot), une arthrogrypose légère et une dysmorphie faciale (fentes palpébrales étroites obliques vers le haut et en dehors, hypertélorisme, légère hypoplasie faciale, pointe nasale bulbeuse, oreilles basses implantées). Les autres signes incluent une cryptorchidie, une hernie inguinale et des troubles du comportement."},"de":{"name":"Mikroduplikationssyndrom 16p13.3","synonyms":["Dup(16)(p13.3)","Duplikation 16p, distale","Trisomie 16p, distale","Trisomie 16pter"],"definition":"Das Mikroduplikationssyndrom 16p13.3 ist ein seltene chromosomale Anomalie, die aus einer partiellen Duplikation des kurzen Arms von Chromosom 16 resultiert und sich mit einem variablen Phänotyp manifestiert, der meist gekennzeichnet ist durch: leichtes bis mäßiges intellektuelles Defizit und Entwicklungsverzögerung (insbesondere Sprache), normales Wachstum, kurze, proximal implantierte Daumen und andere Hand- und Fußfehlbildungen (z. B. Camptodaktylie, Syndaktylie, Klumpfuß), leichte Arthrogrypose und charakteristische Gesichtszüge (schräg stehende, enge Lidspalten, Hypertelorismus, Hypoplasie des Mittelgesichts, knollige Nasenspitze und tief angesetzte Ohren). Andere berichtete Manifestationen umfassen Kryptorchismus, Leistenbruch und Verhaltensprobleme."},"es":{"name":"Síndrome de microduplicación 16p13.3","synonyms":["Trisomía terminal 16p","Dup(16)(p13.3)","Duplicación terminal 16p","Trisomía 16pter"],"definition":"El síndrome de microduplicación 16p13.3 es un síndrome poco frecuente de anomalías cromosómicas resultante de una duplicación parcial del brazo corto del cromosoma 16. Se manifiesta con un fenotipo variable caracterizado principalmente por discapacidad intelectual de leve a moderada, retraso del desarrollo (particularmente del lenguaje), crecimiento normal, pulgares cortos de implantación proximal y otras malformaciones de manos y pies (tales como camptodactilia, sindactilia, pie zambo), artrogriposis leve y facies característica (fisuras palpebrales estrechas e inclinadas hacia arriba, hipertelorismo, hipoplasia mediofacial, punta de la nariz bulbosa y orejas de implantación baja). Otras manifestaciones descritas incluyen criptorquidismo, hernia inguinal y trastornos conductuales."},"it":{"name":"Sindrome da microduplicazione 16p13.3","synonyms":["Dup(16)(p13.3)","Duplicazione 16p distale","Duplicazione 16p telomerica","Trisomia 16p distale","Trisomia 16pter"],"definition":"La sindrome da microduplicazione 16p13.3 è un'anomalia cromosomica rara, causata dalla duplicazione parziale del braccio corto di un cromosoma 16; il quadro clinico è variabile e spesso è caratterizzato da deficit intellettivo lieve-moderato, ritardo dello sviluppo (in particolare dell'acquisizione del linguaggio), crescita normale, pollici corti ad impianto prossimale, altre malformazioni delle mani e dei piedi (camptodattilia, sindattilia, piede equino), artrogriposi lieve e dismorfismi facciali caratteristici (rime palpebrali strette e oblique verso l'alto, ipertelorismo, ipoplasia medio-facciale, punta del naso globosa, orecchie a basso impianto). Altri segni clinici sono il criptorchidismo, l'ernia inguinale e i problemi comportamentali."},"nl":{"name":"16p13.3-microduplicatiesyndroom","synonyms":["Distale duplicatie 16p","Distale trisomie 16p","Dup(16)(p13.3)","Telomerische duplicatie 16p","Trisomie 16pter"],"definition":"16p13.3 microduplicatiesyndroom is een zeldzaam syndroom met een chromosomale anomalie als gevolg van een partiële duplicatie van de korte arm van chromosoom 16, en manifesteert zich met een variabel fenotype dat vooral gekarakteriseerd wordt door milde tot matige intellectuele achterstand en ontwikkelingsachterstand (voornamelijk van de spraak), normale groei, korte en proximaal ingeplante duimen, en andere hand- en voetmalformaties (zoals camptodactylie, syndactylie, klompvoeten), milde artrogrypose en typerend gelaat (opwaartse, smalle ooglidspleten, hypertelorisme, hypoplasie van het middengezicht, bolvormige neuspunt en laagstaande oren). Andere manifestaties die werden gerapporteerd zijn onder meer cryptorchisme, inguinale hernia (liesbreuk) en gedragsproblemen."},"pt":{"name":"Síndrome de microduplicação 16p13.3","synonyms":["Trissomia distal 16p"]},"pl":{"name":"Zespół mikroduplikacji 16p13.3","synonyms":["Dup(16)(p13.3)","Duplikacja dystalna 16p","Duplikacja telomerowa 16p","Trisomia 16pter","Trisomia dystalna 16p"]},"cs":{"name":"Mikroduplikační syndrom 16p13.3","synonyms":["Distální duplikace 16p","Distální trizomie 16p","Dup(16)(p13.3)","Telomerická duplikace 16p","Trizomie 16pter"]},"uk":{"name":"Синдром мікродуплікації 16p13.3","synonyms":["Дистальна дуплікація 16р","Дистальна трисомія 16р","Dup(16)(p13.3)","Теломерна дуплікація 16p","Трисомія 16-ї хромосоми"],"definition":"16p13.3 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 and manifesting with a variable phenotype which is mostly characterized by: mild to moderate intellectual deficit and developmental delay (particularly speech), normal growth, short, proximally implanted thumbs and other hand and feet malformations (such as camptodactyly, syndactyly, club feet), mild arthrogryposis and characteristic facies (upslanting, narrow palpebral fissures, hypertelorism, mid face hypoplasia, bulbous nasal tip and low set ears). Other reported manifestations include cryptorchidism, inguinal hernia and behavioral problems."},"zh":{"name":"16p13.3微重复综合征","synonyms":["16号染色体短臂端粒重复"],"definition":"16p13.3微重复综合征是一种罕见的染色体异常综合征，由16号染色体短臂部分重复引起，表现为多种表型，主要表现为轻度至中度智力缺陷和发育迟缓（尤其是言语发育）、体重增长正常、矮小、拇指位置偏近端和其他手足畸形（如指屈曲畸形、并指畸形、马蹄内翻足）、关节挛缩和特殊面容（眼睑裂狭长而上斜、眼间距宽、面中部发育不全、球状鼻尖和低位耳）。其他报告的表现包括隐睾、腹股沟疝和行为问题。"},"tr":{"name":"16p13.3 mikroduplikasyon sendromu","synonyms":["Dup (16) (p13.3)","Trizomi 16pter","Distal trizomi 16p","Distal duplikasyon 16p","Telomerik duplikasyon 16p"]}},"xrefs":[{"source":"OMIM","code":"613458","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q92.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013273","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518796","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10755","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262794,"name":"Partial duplication of the short arm of chromosome 16 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":27.0,"area":"Worldwide","status":"Validated","source":"26873618[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26873618[PMID]"}],"phenotypes":null}