{"orpha":261204,"name":"16p11.2p12.2 microduplication syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Dup(16)(p11.2p12.2)","Trisomy 16p11.2p12.2"],"definition":"16p11.2p12.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental/psychomotor delay (particularly of speech), intellectual disability, autism spectrum disorder and/or obsessive and repetitive behavior, behavioral problems (such as aggression and outbursts), dysmorphic facial features (triangular face, deep set eyes, broad and prominent nasal bridge, upslanting or narrow palpebral features, hypertelorism). Additionally, finger/hand anomalies, short stature, microcephaly and slender build are frequently described.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-261204/","orphanet_url":"https://www.orpha.net/en/disease/detail/261204","names":{"fr":{"name":"Syndrome de microduplication 16p11.2p12.2","synonyms":["Dup(16)(p11.2p12.2)","Trisomie 16p11.2p12.2"],"definition":"Le syndrome de microduplication 16p11.2p12.2 est un syndrome rare d'anomalie chromosomique résultant de la duplication partielle du bras court du chromosome 16. Son phénotype est très variable et se caractérise typiquement par un retard de développement/psychomoteur (affectant surtout la parole), un déficit intellectuel, un trouble du spectre de l'autisme et/ou un comportement obsessionnel et répétitif, des troubles du comportement (telles que de l'agression ou des accès de colère), ainsi qu'une dysmorphie faciale (visage triangulaire, yeux profondément implantés, arête nasale large et proéminente, fentes palpébrales étroites ou obliques en haut et en dehors, hypertélorisme). Des anomalies des doigts/mains, une petite taille, une microcéphalie et un aspect longiligne sont fréquemment décrits."},"de":{"name":"Mikroduplikationssyndrom 16p11.2p12.2","synonyms":["Dup(16)(p11.2p12.2)","Trisomie 16p11.2p12.2"],"definition":"Das Mikroduplikationssyndrom 16p11.2p12.2 ist ein seltene chromosomale Anomalie, die aus der partiellen Duplikation des kurzen Arms von Chromosom 16 resultiert. Es zeigt einen sehr variablen Phänotyp, der typischerweise durch Entwicklungs-/Psychomotorik-Verzögerung (insbesondere der Sprache), Intelligenzminderung, Autismus-Spektrum-Störung und/oder zwanghaftes und repetitives Verhalten, Verhaltensprobleme (wie Aggression und Ausbrüche), dysmorphe Gesichtszüge (dreieckiges Gesicht, tief liegende Augen, breiter und prominenter Nasenrücken, nach oben gerichtete oder schmale Lidspalten, Hypertelorismus) gekennzeichnet ist. Zusätzlich werden häufig Finger-/Handanomalien, Kleinwuchs, Mikrozephalie und ein schlanker Körperbau beschrieben."},"es":{"name":"Síndrome de microduplicación 16p11.2p12.2","synonyms":["Dup(16)(p11.2p12.2)","Trisomía 16p11.2p12.2"],"definition":"El síndrome de microduplicación del 16p11.2p12.2 es un síndrome poco frecuente de anomalías cromosómicas resultante de la duplicación parcial del brazo corto del cromosoma 16 con un fenotipo altamente variable. Se caracteriza típicamente por un retraso del desarrollo/psicomotor (particularmente del habla), discapacidad intelectual, trastornos del espectro autista y/o conducta obsesiva y repetitiva, problemas conductuales (tales como agresividad y arrebatos), rasgos faciales dismórficos (rostro triangular, ojos hundidos, puente nasal ancho y prominente, rasgos palpebrales inclinados hacia arriba o estrechos e hipertelorismo). Asimismo, también se describen con frecuencia anomalías de los dedos/manos, estatura baja, microcefalia y constitución delgada."},"it":{"name":"Sindrome da microduplicazione 16p11.2p12.2","synonyms":["Dup(16)(p11.2p12.2)","Trisomia 16p11.2p12.2"],"definition":"La sindrome da microduplicazione 16p11.2p12.2 è un'anomalia cromosomica rara causata dalla duplicazione parziale del braccio corto del cromosoma 16. Il quadro clinico è molto variabile e di solito è caratterizzato da ritardo psicomotorio/dello sviluppo (in particolare del linguaggio), disabilità intellettiva, disturbo dello spettro autistico e/o comportamento ossessivo e ripetitivo, problemi comportamentali (aggressività e accessi d'ira), dismorfismi facciali (viso triangolare, occhi infossati, radice del naso allargata e prominente, rime palpebrali rivolte verso l'alto o strette, ipertelorismo). Spesso sono presenti anche anomalie delle dita e delle mani, bassa statura, microcefalia e corporatura esile."},"nl":{"name":"16p11.2p12.2-microduplicatiesyndroom","synonyms":["Dup(16)(p11.2p12.2)","Trisomie 16p11.2p12.2"],"definition":"16p11.2p12.2 microduplicatiesyndroom is een zeldzaam syndroom met een chromosomale anomalie als gevolg van de partiële duplicatie van de korte arm van chromosoom 16 en met een zeer variabel fenotype. De ziekte wordt doorgaans gekarakteriseerd door ontwikkelings- en psychomotorische achterstand (vooral van de spraak), intellectuele achterstand, autismespectrumstoornis en/of obsessief en repetitief gedrag, gedragsproblemen (zoals agressie en uitbarstingen), en dysmorfe gelaatskenmerken (driehoekig gezicht, diepliggende ogen, brede en opvallende neusbrug, schuin oplopende of smalle ooglidspleten, hypertelorisme). Bijkomend worden regelmatig anomalieën van de vingers/handen, een kleine gestalte, microcefalie, en een slanke lichaamsbouw beschreven."},"pt":{"name":"Síndrome de microduplicação 16p11.2p12.2","synonyms":["Trissomia 16p11.2p12.2"]},"pl":{"name":"Zespół mikroduplikacji 16p11.2p12.2","synonyms":["Dup(16)(p11.2p12.2)","Trisomia 16p11.2p12.2"]},"cs":{"name":"Syndrom mikroduplikace 16p11.2p12.2","synonyms":["Dup(16)(p11.2p12.2)","Trizomie 16p11.2p12.2"]},"uk":{"name":"Синдром мікродуплікації 16p11.2p12.2","synonyms":["Dup(16)(p11.2p12.2)","Трисомія 16p11.2p12.2"],"definition":"16p11.2p12.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental/psychomotor delay (particularly of speech), intellectual disability, autism spectrum disorder and/or obsessive and repetitive behavior, behavioral problems (such as aggression and outbursts), dysmorphic facial features (triangular face, deep set eyes, broad and prominent nasal bridge, upslanting or narrow palpebral features, hypertelorism). Additionally, finger/hand anomalies, short stature, microcephaly and slender build are frequently described."},"zh":{"name":"染色体16p11.2p12.2微复制综合征","synonyms":["16p11.2p12.2三体"],"definition":"16p11.2p12.2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，具有高度多变的表型，典型的特征是发育/精神运动迟缓(尤其是言语)、智力障碍、自闭症谱系障碍和/或强迫症和重复行为、行为问题(如攻击性和爆发性)、面部畸形(三角脸、深陷眼睛、宽大而突出的鼻梁、上斜或狭窄的眼睑特征、眼距过宽)。此外，手指/手畸形、身材矮小、小头畸形和身材苗条也经常被描述。"},"tr":{"name":"16p11.2p12.2 mikrodüplikasyon sendromu","synonyms":["Dup (16) (p11.2p12.2)","Trizomi 16p11.2p12.2"]}},"xrefs":[{"source":"ICD-10","code":"Q92.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0016834","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518821","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":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24259393[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"24259393[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000717","label":"Autism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002463","label":"Language impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000709","label":"Psychosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100753","label":"Schizophrenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null}]}}