{"orpha":300305,"name":"11p15.4 microduplication syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Dup(11)p(15.4)","Trisomy 11p15.4"],"definition":"A rare partial autosomal trisomy/tetrasomy characterized by obesity, global developmental delay and intellectual disability, facial dysmorphism (synophrys, high-arched eyebrows, large posteriorly rotated ears, upturned nose, long smooth philtrum, overbite and high palate), large hands and limb hypotonia. Additional features include seizures and behavioral abnormalities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-300305/","orphanet_url":"https://www.orpha.net/en/disease/detail/300305","names":{"fr":{"name":"Syndrome de microduplication 11p15.4","synonyms":["Dup(11)p(15.4)","Trisomie 11p15.4"],"definition":"Trisomie/tétrasomie partielle autosomique rare caractérisée par une obésité, un retard global de développement et une déficience intellectuelle, une dysmorphie faciale (synophrydie, sourcils très arqués, grandes oreilles orientées vers l'arrière, nez retroussé, philtrum long et lisse, supraclusion et palais ogival), de grandes mains et une hypotonie des membres. Les autres signes cliniques observés sont des crises d'épilepsie et des troubles du comportement."},"de":{"name":"Mikroduplikationssyndrom 11p15.4","synonyms":["Dup(11)p(15.4)","Trisomie 11p15.4"]},"es":{"name":"Síndrome de microduplicación 11p15.4","synonyms":["Dup(11)p(15.4)","Trisomía 11p15.4"],"definition":"Es una una alteración cromosómica poco frecuente caracterizada por obesidad, retraso global del desarrollo y discapacidad intelectual, dismorfia facial (sinofridia, cejas arqueadas, orejas grandes y rotadas posteriormente, nariz respingona, surco nasolabial largo y liso, sobremordida y paladar alto), manos grandes e hipotonía de las extremidades. Otras hallazgos adicionales incluyen convulsiones y trastornos de conducta."},"it":{"name":"Sindrome da microduplicazione 11p15.4","synonyms":["Dup(11)p(15.4)","Trisomia 11p15.4"],"definition":"La sindrome da microduplicazione 11p15.4 è una trisomia/tetrasomia parziale rara a trasmissione autosomica, caratterizzata da obesità, ritardo dello sviluppo globale, disabilità intellettiva, dismorfismi facciali (sinofria, sopracciglia arcuate, orecchie grandi ruotate posteriormente, naso con punta rivolta verso l'alto, filtro lungo e liscio, morso profondo e palato ogivale), mani grandi ed ipotonia degli arti. Altri segni clinici comprendono le crisi epilettiche e le anomalie del comportamento."},"nl":{"name":"11p15.4-microduplicatiesyndroom","synonyms":["Dup(11)(p15.4)","Trisomie 11p15.4"],"definition":"Een zeldzame, partiële, autosomale trisomie/tetrasomie, gekarakteriseerd door obesitas, algehele ontwikkelingsachterstand en intellectuele achterstand, faciale dysmorfie (synophrys, hoog gebogen wenkbrauwen, grote en naar achteren gedraaide oren, wipneus, lang en glad filtrum, overbeet, en hoog verhemelte), grote handen en hypotonie van ledematen. Bijkomende kenmerken zijn onder meer insulten en gedragsafwijkingen."},"pt":{"name":"Síndrome de microduplicação 11p15.4","synonyms":["Dup(11)p(15.4)","Trissomia 11p15.4"]},"pl":{"name":"Zespół mikroduplikacji 11p15.4","synonyms":["Dup(11)p(15.4)","Trisomia 11p15.4"]},"cs":{"name":"Mikroduplikační syndrom 11p15.4","synonyms":["Dup(11)p(15.4)","Trizomie 11p15.4"]},"uk":{"name":"Синдром мікродуплікації 11p15.4","synonyms":["Dup(11)p(15.4)","Трисомія 11p15.4"],"definition":"A rare partial autosomal trisomy/tetrasomy characterized by obesity, global developmental delay and intellectual disability, facial dysmorphism (synophrys, high-arched eyebrows, large posteriorly rotated ears, upturned nose, long smooth philtrum, overbite and high palate), large hands and limb hypotonia. Additional features include seizures and behavioral abnormalities."},"zh":{"name":"11p15.4微重复综合征","synonyms":["11p15.4三体"],"definition":"一种罕见的部分常染色体三体/四体症，其特征是肥胖、全面发育迟缓和智力障碍、面部畸形（一字眉、高弓形眉、大的后旋耳、鼻上翘、人中长而扁平、纵向过咬合和高腭）、大手和四肢肌张力减退。其他特征包括惊厥发作和行为异常。"},"tr":{"name":"11p15.4 mikroduplikasyon sendromu","synonyms":["Dup(11)p(15.4)","Trizomi 11p15.4"]}},"xrefs":[{"source":"ICD-10","code":"Q92.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD41.A","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"406987754"},{"source":"MONDO","code":"0017580","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749508","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":93460,"name":"Overgrowth syndrome","classifications":[147,156]},{"orpha":262785,"name":"Partial duplication of the short arm of chromosome 11 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"22052655[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":"2019-10-07","source":"22052655[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012389","label":"Appendicular hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002553","label":"Highly arched eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001176","label":"Large hands","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011094","label":"Overbite","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","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:0000664","label":"Synophrys","frequency":"Occasional (29-5%)","criteria":null}]}}