{"orpha":261102,"name":"Distal 7q11.23 microduplication syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Distal trisomy 7q11.23","Dup7q11.23D","Distal dup(7)(q11.23)"],"definition":"Distal 7q11.23 microduplication syndrome is a rare chromosomal anomaly characterized by a predominantly neuropsychiatric phenotype with a few dysmorphic characteristics. Speech delay, learning difficulties, attention deficit hyperactivity disorder, bipolar disorder and aggressiveness have been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-261102/","orphanet_url":"https://www.orpha.net/en/disease/detail/261102","names":{"fr":{"name":"Syndrome de microduplication 7q11.23 distale","synonyms":["Dup(7)(q11.23) distale","Dup7q11.23D","Trisomie 7q11.23 distale"],"definition":"Anomalie chromosomique rare caractérisée par un phénotype principalement neuropsychiatrique associé à quelques caractéristiques dysmorphiques. Des cas de retard de langage, de difficultés d'apprentissage, de trouble déficitaire de l'attention avec hyperactivité, de troubles bipolaires et d'agressivité ont été rapportés."},"de":{"name":"Mikroduplikationssyndrom 7q11.23, distal","synonyms":["Distal dup(7)(q11.23)","Dup7q11.23D","Trisomie 7q11.23, distal"]},"es":{"name":"Síndrome de microduplicación terminal 7q11.23","synonyms":["Dup(7)(q11.23) terminal","Dup7q11.23D","Trisomía terminal 7q11.23"],"definition":"El síndrome de microduplicación terminal 7q11.23, es una anomalía cromosómica poco frecuente caracterizada por un fenotipo predominantemente neuropsiquiátrico con algunas características dismórficas. También se han descrito retrasos del habla, dificultades de aprendizaje, trastorno por déficit de atención e hiperactividad, trastorno bipolar y agresividad."},"it":{"name":"Sindrome da microduplicazione 7q11.23 distale","synonyms":["Dup(7)(q11.23) distale","Trisomia 7q11.23 distale"],"definition":"La sindrome da microduplicazione 7q11.23 distale è un'anomalia cromosomica rara caratterizzata da un fenotipo per lo più neuropsichiatrico, associato a pochi dismorfismi. Sono stati descritti pazienti con ritardo del linguaggio, difficoltà di apprendimento, deficit dell'attenzione con iperattività, bipolarismo ed aggressività."},"nl":{"name":"Distale 7q11.23-microduplicatiesyndroom","synonyms":["Distale dup(7)(q11.23)","Distale trisomie 7q11.23","Dup7q11.23D"],"definition":"Distale 7q11.23 microduplicatiesyndroom is een zeldzame chromosomale anomalie die gekarakteriseerd wordt door een overwegend neuropsychiatrisch fenotype met enkele dysmorfe kenmerken. Spraakachterstand, leermoeilijkheden, aandachtstekortstoornis met hyperactiviteit, bipolaire stoornis en agressiviteit werden reeds gerapporteerd."},"pt":{"name":"Síndrome de microduplicação distal 7q11.23","synonyms":["Trisomia distal 7q11.23"]},"pl":{"name":"Zespół mikroduplikacji dystalnej 7q11.23","synonyms":["Dystalna dup(7)(q11.23)","Dystalna trisomia 7q11.23"],"definition":"*Zespół mikroduplikacji dystalnej 7q11.23 jest rzadką aberracją chromosomową, która charakteryzuje się głównie objawami neuropsychiatrycznymi z nielicznymi cechami dysmorficznymi. Opisywano opóźnienie rozwoju mowy, trudności w nauce, zespół nadpobudliwości psychoruchowej z deficytem uwagi, chorobę afektywną dwubiegunową oraz zachowania agresywne."},"cs":{"name":"Syndrom distální mikroduplikace 7q11.23","synonyms":["Distální dup(7)(q11.23)","Distální trizomie 7q11.23"]},"uk":{"name":"Синдром дистальної мікродуплікації 7q11.23","synonyms":["Дистальна дуплікація (7)(q11.23)","Дистальна трисомія 7q11.23","Dup7q11.23D"],"definition":"Distal 7q11.23 microduplication syndrome is a rare chromosomal anomaly characterized by a predominantly neuropsychiatric phenotype with a few dysmorphic characteristics. Speech delay, learning difficulties, attention deficit hyperactivity disorder, bipolar disorder and aggressiveness have been reported."},"zh":{"name":"远端染色体7q11.23微重复综合征","synonyms":["7q11.23远端三体"],"definition":"7q11.23远端微重复综合征是一种罕见的染色体异常，以神经精神症状为主，伴有少许畸形特征。语言延迟，学习困难，注意缺陷多动障碍，双相情感障碍和攻击性已经被报道过。"},"tr":{"name":"Distal 7q11.23 mikroduplikasyon sendromu","synonyms":["Dup7q11.23D","Distal dup (7) (q11.23)","Distal trizomi 7q11.23"]}},"xrefs":[{"source":"ICD-10","code":"Q92.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD41.60","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"480262520"},{"source":"MONDO","code":"0016832","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4750782","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262887,"name":"Partial duplication of the long arm of chromosome 7 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"DOI:10.1159/000448698[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_DOI:10.1159/000448698[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"26109321[PMID]_25428557[PMID]","terms":[{"hpo":"HP:0004942","label":"Aortic aneurysm","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:0001256","label":"Intellectual disability, mild","frequency":"Very frequent (99-80%)","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:0000776","label":"Congenital diaphragmatic hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100835","label":"Benign neoplasm of the central nervous system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002308","label":"Chiari malformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007330","label":"Frontoethmoidal encephalocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null}]}}