{"orpha":1727,"name":"22q11.2 duplication syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["22q11.2 microduplication syndrome","Dup(22)(q11)","Duplication 22q11.2","Trisomy 22q11.2"],"definition":"A rare chromosomal anomaly characterized by an extremely variable clinical phenotype and may include heart defects, urogenital abnormalities, velopharyngeal insufficiency with or without cleft palate, and ranging from multiple defects to mild learning difficulties with some individuals being essentially normal.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1727/","orphanet_url":"https://www.orpha.net/en/disease/detail/1727","names":{"fr":{"name":"Syndrome de duplication 22q11.2","synonyms":["Dup(22)(q11)","Duplication 22q11.2","Syndrome de microduplication 22q11.2","Trisomie 22q11.2"],"definition":"Anomalie chromosomique rare caractérisée par un phénotype clinique extrêmement variable et pouvant inclure des malformations cardiaques, des anomalies urogénitales, une insuffisance vélopharyngée avec ou sans fente palatine, allant de malformations multiples à de légères difficultés d'apprentissage, certains sujets porteurs pouvant être normaux."},"de":{"name":"22q11.2-Duplikationssyndrom","synonyms":["22q11-Mikroduplikations-Syndrom","Dup(22)(q11)","Duplikation 22q11.2","Trisomie 22q11.2","dup22q11-Syndrom"],"definition":"Eine seltene Chromosomenanomalie, die durch einen sehr variablen klinischen Phänotyp gekennzeichnet ist, der Herzfehler, urogenitale Anomalien und velopharyngeale Insuffizienz mit oder ohne Gaumenspalte umfassen kann. Das Spektrum reicht von multiplen Defekten bis hin zu leichten Lernschwierigkeiten, einige Individuen sind phänotypisch normal."},"es":{"name":"Síndrome de duplicación 22q11.2","synonyms":["Dup(22)(q11)","Duplicación 22q11.2","Síndrome de microduplicación 22q11.2","Trisomía 22q11.2"],"definition":"Es una anomalía cromosómica poco frecuente caracterizada por un fenotipo clínico altamente variable, pudiendo incluir defectos cardíacos, anomalías urogenitales, insuficiencia velofaríngea con o sin paladar hendido, que va desde múltiples defectos hasta leves dificultades de aprendizaje, con algunos individuos prácticamente asintomáticos."},"it":{"name":"Sindrome da duplicazione 22q11.2","synonyms":["Dup22q11","Duplicazione 22q11.2","Trisomia 22q11.2"],"definition":"La sindrome da duplicazione 22q11.2 è un'anomalia cromosomica rara caratterizzata da un quadro clinico molto variabile, che comprende le cardiopatie, le anomalie urogenitali e l'insufficienza velofaringea con o senza palatoschisi; i pazienti possono presentare deficit multipli o lievi difficoltà di apprendimento, mentre alcuni sono essenzialmente normali."},"nl":{"name":"22q11.2-duplicatiesyndroom","synonyms":["22q11.2-microduplicatiesyndroom","Dup(22)(q11)","Duplicatie 22q11.2","Trisomie 22q11.2"],"definition":"Een zeldzame chromosomale anomalie, gekarakteriseerd door een uiterst variabel klinisch fenotype met onder meer hartdefecten, urogenitale afwijkingen, velofaryngeale insufficiëntie met of zonder gespleten verhemelte, gaande van meerdere defecten tot milde leerproblemen en sommige individuen die nagenoeg normaal zijn."},"pt":{"name":"Síndrome de duplicação 22q11.2","synonyms":["Síndrome de microduplicação 22q11.2"],"definition":"A recentemente descrita síndrome de microduplicação 22q11.2 (síndrome dup22q11) é a associação de um amplo espectro clínico e uma duplicação da região que está deletada nos doentes com síndrome de DiGeorge ou velocardiofacial (DG/VCFS); ver este termo), estabelecendo uma síndrome complementar de duplicação."},"pl":{"name":"Zespół mikroduplikacji 22q11.2","synonyms":["Dup(22)(q11)","Duplikacja 22q11.2","Trisomia 22q11.2"]},"cs":{"name":"Mikroduplikační syndrom 22q11.2","synonyms":["Dup(22)(q11)","Duplikace 22q11.2","Trizomie 22q11.2"]},"uk":{"name":"Синдром дуплікації 22q11.2","synonyms":["Синдром мікродуплікації 22q11.2","Dup(22)(q11)","Дуплікація 22q11.2","Трисомія 22q11.2"],"definition":"A rare chromosomal anomaly characterized by an extremely variable clinical phenotype and may include heart defects, urogenital abnormalities, velopharyngeal insufficiency with or without cleft palate, and ranging from multiple defects to mild learning difficulties with some individuals being essentially normal."},"zh":{"name":"22q11.2微重复综合征","synonyms":["22q11.2重复"]},"tr":{"name":"22q11.2 mikroduplikasyon sendromu","synonyms":["Dup (22) (q11)","Trizomi 22q11.2","Duplikasyon 22q11.2"]}},"xrefs":[{"source":"OMIM","code":"608363","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q92.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD41.M","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2061812554"},{"source":"MONDO","code":"0012020","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567224","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2675369","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10557","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":263004,"name":"Partial duplication of the long arm of chromosome 22 syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"TBX1","name":"T-box transcription factor 1","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"19254783[PMID]","hgnc":"11592","ensembl":"ENSG00000184058","omim":"602054","loci":["22q11.21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":216.0,"area":"Worldwide","status":"Validated","source":"36735193[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"36735193[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000600","label":"Abnormality of the pharynx","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000457","label":"Depressed nasal ridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001611","label":"Hypernasal speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000275","label":"Narrow face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000733","label":"Abnormal repetitive mannerisms","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010978","label":"Abnormality of immune system physiology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009908","label":"Anterior creases of earlobe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010515","label":"Aplasia/Hypoplasia of the thymus","frequency":"Occasional (29-5%)","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:0000722","label":"Compulsive behaviors","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100627","label":"Displacement of the urethral meatus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004383","label":"Hypoplastic left heart","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011611","label":"Interrupted aortic arch","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","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:0000319","label":"Smooth philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001636","label":"Tetralogy of Fallot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001669","label":"Transposition of the great arteries","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008661","label":"Urethral stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000445","label":"Wide nose","frequency":"Occasional (29-5%)","criteria":null}]}}