{"orpha":370079,"name":"Proximal 16p11.2 microduplication syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Proximal dup(16)(p11.2)","Proximal trisomy 16p11.2"],"definition":"Proximal 16p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 characterized by developmental delay and intellectual disability of a highly variable degree, autism spectrum, obsessive-compulsive, attention deficit hyperactivity disorder, speech articulation abnormalities, muscular hypotonia, tremor, hyper- or hyporeflexia, seizures, microcephaly, neuroimaging abnormalities, decreased body mass index and schizophrenia or bipolar disorder later on in life.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-370079/","orphanet_url":"https://www.orpha.net/en/disease/detail/370079","names":{"fr":{"name":"Syndrome de microduplication 16p11.2 proximale","synonyms":["Dup(16)(p11.2) proximale","Trisomie 16p11.2 proximale"],"definition":"Un syndrome rare d'anomalie chromosomique causé par la duplication partielle du bras court du chromosome 16. Il se caractérise par un retard de développement et un déficit intellectuel de sévérité très variable, un spectre autistique, un trouble obsessionnel compulsif, un trouble du déficit de l'attention/hyperactivité, des anomalies de l'articulation, une hypotonie musculaire, un tremblement, une hyper- ou hyporéflexie, des convulsions, une microcéphalie, des anomalies en neuro-imagerie, une diminution de l'indice de masse corporelle, et une schizophrénie ou un trouble bipolaire plus tardivement au cours de la vie."},"de":{"name":"Proximales Mikroduplikationssyndrom 16p11.2","synonyms":["Dup(16)(p11.2), proximal","Trisomie 16p11.2, proximal"],"definition":"Das proximale Mikroduplikationssyndrom 16p11.2 ist eine seltene Chromosomenanomalie, die aus einer partiellen Duplikation des kurzen Arms von Chromosom 16 resultiert. Das Syndrom ist gekennzeichent durch Entwicklungsverzögerung und Intelligenzminderung in sehr unterschiedlichem Ausmaß, Autismus-Spektrum-Störungen, Zwangsstörungen Aufmerksamkeitsdefizit-Hyperaktivitätsstörung, Sprachartikulationsanomalien, Muskelhypotonie, Tremor, Hyper- oder Hyporeflexie, Krampfanfälle, Mikrozephalie, Anomalien im Neuroimaging, verminderter Body-Mass-Index und Schizophrenie oder bipolare Störung im späteren Leben."},"es":{"name":"Síndrome de microduplicación proximal 16p11.2","synonyms":["Dup(16)(p11.2) proximal","Trisomía proximal 16p11.2"],"definition":"El síndrome de microduplicación 16p11.2 proximal es un síndrome poco frecuente de anomalías cromosómicas, que resulta de una duplicación parcial del brazo corto del cromosoma 16. Está caracterizado por retraso del desarrollo y discapacidad intelectual de un grado muy variable, rasgos del espectro autista, trastorno obsesivo-compulsivo, trastorno por déficit de atención con hiperactividad, alteraciones del habla, hipotonía muscular, temblor, hiper- o hiporreflexia, convulsiones, microcefalia, anomalías en estudios de neuroimagen, disminución del índice de masa corporal y esquizofrenia o trastorno bipolar de forma más tardía."},"it":{"name":"Sindrome da microduplicazione 16p11.2 prossimale","synonyms":["Dup(16)(p11.2) prossimale","Trisomia 16p11.2 prossimale"],"definition":"La sindrome da microduplicazione 16p11.2 prossimale è un'anomalia cromosomica rara, causata dalla duplicazione parziale del braccio corto del cromosoma 16. È caratterizzata da ritardo dello sviluppo e disabilità intellettiva di gravità variabile, disturbo dello spettro autistico, disturbo ossessivo-compulsivo e deficit di attenzione/iperattività, anomalie nell'articolazione del linguaggio, ipotonia muscolare, tremori, iper- o ipo-reflessia, crisi epilettiche, microcefalia, anomalie evidenti alle neuroimmagini, indice di massa corporea basso e, nelle fasi avanzate della vita, schizofrenia o disturbo bipolare."},"nl":{"name":"Proximale 16p11.2-microduplicatiesyndroom","synonyms":["Proximale dup(16)(p11.2)","Proximale trisomie 16p11.2"],"definition":"Proximale 16p11.2 microduplicatiesyndroom is een zeldzaam syndroom met een chromosomale anomalie als gevolg van een partiële duplicatie van de korte arm van chromosoom 16, en wordt gekarakteriseerd door ontwikkelingsachterstand en sterk wisselende gradaties van intellectuele achterstand, autismespectrumstoornis, obsessief-compulsieve stoornis, aandachtsdeficiëntie-/hyperactiviteitsstoornis, articulatieproblemen, musculaire hypotonie, tremor, hyper- of hyporeflexie, insulten, microcefalie, afwijkingen bij neurologische beeldvorming, verminderde body mass index, en schizofrenie of bipolaire stoornis op latere leeftijd."},"pt":{"name":"Síndrome de microduplicação proximal da região 16p11.2"},"pl":{"name":"Zespół mikroduplikacji proksymalnej 16p11.2","synonyms":["Proksymalna dup(16)(p11.2)","Proksymalna trisomia 16p11.2"]},"cs":{"name":"Proximální mikroduplikační syndrom 16p11.2","synonyms":["Proximální dup(16)(p11.2)","Proximální trizomie 16p11.2"]},"uk":{"name":"Синдром проксимальної мікродуплікації 16p11.2","synonyms":["Проксимальна дуплікація (16)(p11.2)","Проксимальна трисомія 16p11.2"],"definition":"Proximal 16p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 characterized by developmental delay and intellectual disability of a highly variable degree, autism spectrum, obsessive-compulsive, attention deficit hyperactivity disorder, speech articulation abnormalities, muscular hypotonia, tremor, hyper- or hyporeflexia, seizures, microcephaly, neuroimaging abnormalities, decreased body mass index and schizophrenia or bipolar disorder later on in life."},"zh":{"name":"近端16p11.2微重复综合征","synonyms":["近端16p11.2三体"],"definition":"近端16p11.2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，其特征是发育迟缓和高度可变度的智力障碍、自闭症谱系、强迫症、注意缺陷多动障碍、语言表达异常、肌张力低下、震颤，反射亢进或减退、癫痫发作、小头畸形、神经影像异常、体重指数下降及后期出现的可精神分裂症或双相情感障碍。"},"tr":{"name":"Proksimal 16p11.2 mikroduplikasyon sendromu","synonyms":["Proksimal dup (16) (p11.2)","Proksimal trozimi 16p11.2"]}},"xrefs":[{"source":"OMIM","code":"614671","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q92.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013847","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707332","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12388","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]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":21.0,"area":"Worldwide","status":"Validated","source":"19914906[PMID]_19755429[PMID]_20959866[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"19914906[PMID]_19755429[PMID]_20959866[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-06-05","source":"19755429[PMID]_19914906[PMID]","terms":[{"hpo":"HP:0012751","label":"Abnormal basal ganglia MRI signal intensity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001166","label":"Arachnodactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0045082","label":"Decreased body mass index","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012368","label":"Flat face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008551","label":"Microtia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000319","label":"Smooth philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0045075","label":"Sparse eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000653","label":"Sparse eyelashes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009088","label":"Speech articulation difficulties","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030800","label":"Abnormal visual accommodation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000722","label":"Compulsive behaviors","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009553","label":"Abnormality of the hairline","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000717","label":"Autism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007302","label":"Bipolar affective disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000776","label":"Congenital diaphragmatic hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100753","label":"Schizophrenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009891","label":"Underdeveloped supraorbital ridges","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002937","label":"Hemivertebrae","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Very rare (<4-1%)","criteria":null}]}}