{"orpha":228399,"name":"8q12 microduplication syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Dup(8)(q12)","Trisomy 8q12"],"definition":"The newly described 8q12 microduplication syndrome is associated with unusual and characteristic multi-organ clinical features, which include hearing loss, congenital heart defects, intellectual disability, hypotonia in infancy, and Duane anomaly.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-228399/","orphanet_url":"https://www.orpha.net/en/disease/detail/228399","names":{"fr":{"name":"Syndrome de microduplication 8q12","synonyms":["Dup(8)(q12)","Trisomie 8q12"],"definition":"Le syndrome de microduplication 8q12, de description récente, comporte un tableau clinique caractéristique inhabituel et plurisystémique. Il associe une surdité, des malformations cardiaques, un déficit intellectuel, une hypotonie néonatale et une anomalie de Duane."},"de":{"name":"Mikroduplikationssyndrom 8q12","definition":"Das neu beschriebene 8q12-Mikroduplikation-Syndrom ist assoziiert mit ungewöhnlichen und charakteristischen klinischen Zeichen in mehreren Organsystemen: Schwerhörigkeit, angeborene Herzfehler, intellektuelle Behinderung, im Kleinkindalter Muskelhypotonie und Duane-Anomalie (s. dort)."},"es":{"name":"Síndrome de microduplicación 8q12","synonyms":["Dup(8)(q12)","Trisomía 8q12"],"definition":"El síndrome de microduplicación 8q12, recientemente descrito, presenta un cuadro clínico característico, infrecuente y multiorgánico, que asocia: pérdida auditiva, malformaciones cardiacas, déficit intelectual, hipotonía neonatal y anomalía de Duane."},"it":{"name":"Sindrome da microduplicazione 8q12","synonyms":["Dup(8)(q12)","Trisomia 8q12"],"definition":"La sindrome da microduplicazione 8q12, descritta di recente, si associa a un quadro clinico caratteristico e inusuale a interessamento multiorgano, che comprende sordità, cardiopatie congenite, deficit cognitivo, ipotonia neonatale e anomalia di Duane (si veda questo termine)."},"nl":{"name":"8q12-microduplicatiesyndroom","synonyms":["Dup(8)(q12)","Trisomie 8q12"],"definition":"Een syndroom, gekenmerkt door ongewone en typische klinische kenmerken aan meerdere organen, waaronder gehoorverlies, congenitale hartdefecten, intellectuele achterstand, hypotonie in de zuigelingentijd, en Duane-anomalie."},"pt":{"name":"Síndrome de microdeleção 8q12","definition":"A síndrome de microduplicação 8q12 recentemente descrita está associada a características clínicas incomuns e multi-orgânicas, que incluem surdez, anomalias cardíacas congénitas, défice cognitivo, hipotonia na infância e anomalia de Duane (ver este termo)."},"pl":{"name":"Zespół mikroduplikacji 8q12","synonyms":["Dup(8)(q12)","Trisomia 8q12"]},"cs":{"name":"Mikroduplikační syndrom 8q12","synonyms":["Dup(8)(q12)","Trizomie 8q12"]},"uk":{"name":"Синдром мікродуплікації 8q12","synonyms":["Dup(8)(q12)","Трисомія 8q12"],"definition":"The newly described 8q12 microduplication syndrome is associated with unusual and characteristic multi-organ clinical features, which include hearing loss, congenital heart defects, intellectual disability, hypotonia in infancy, and Duane anomaly (see this term)."},"zh":{"name":"8q12微重复综合征","synonyms":["8q12三体"],"definition":"最近报道8q12微重复综合征与异常和特征性的多器官表现相关，包括听力损失、先天性心脏缺陷、智力障碍、婴儿期肌张力低下和Duane异常（见该词条）。"},"tr":{"name":"8q12 mikroduplikasyon sendromu","synonyms":["Dup (8) (q12)","Trizomi 8q12"]}},"xrefs":[{"source":"ICD-10","code":"Q92.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD41.70","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1752271578"},{"source":"MONDO","code":"0016458","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304504","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12816","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262896,"name":"Partial duplication of the long arm of chromosome 8 syndrome","classifications":[147,156]},{"orpha":98683,"name":"Syndromic disorder with strabismus","classifications":[189]},{"orpha":522520,"name":"Syndromic genetic disorder with strabismus","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable","Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"22902603[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0009921","label":"Duane anomaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000637","label":"Long palpebral fissure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001291","label":"Abnormal cranial nerve morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002553","label":"Highly arched eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001773","label":"Short foot","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000076","label":"Vesicoureteral reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null}]}}