{"orpha":228415,"name":"5q35 microduplication syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Dup(5)(q35)","Trisomy 5q35"],"definition":"A rare partial duplication of the long arm of chromosome 5 characterized by low birth weight, developmental delay, intellectual disability, microcephaly, short stature, and behavioral problems. Variable digital, urogenital, cardiac and gastrointestinal anomalies can sometimes occur, as well as variable unremarkable facial dysmorphism. Other signs migh include vision/eye anomalies and delayed bone age.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-228415/","orphanet_url":"https://www.orpha.net/en/disease/detail/228415","names":{"fr":{"name":"Syndrome de microduplication 5q35","synonyms":["Dup(5)(q35)","Trisomie 5q35"],"definition":"Duplication partielle rare du bras long du chromosome 5, caractérisée par un faible poids à la naissance, un retard de développement, une déficience intellectuelle, une microcéphalie, une petite taille et des troubles du comportement. Des anomalies variables au niveau des doigts et des orteils, de l'appareil urogénital, du coeur et du système gastro-intestinal peuvent parfois être observées, ainsi qu'une dysmorphie faciale variable et peu marquée. D'autres signes peuvent inclure des anomalies oculaires et un retard de maturation osseuse."},"de":{"name":"Mikroduplikationssyndrom 5q35","definition":"Das neu beschriebene 5q35-Mikroduplikation-Syndrom ist gekennzeichnet durch Mikrozephalie, Kleinwuchs, Entwicklungsverzögerung und retardierte Knochenreifung."},"es":{"name":"Síndrome de microduplicación 5q35","synonyms":["Dup(5)(q35)","Trisomía 5q35"],"definition":"El síndrome de microduplicación 5q35, descrito recientemente. incluye microcefalia, estatura baja y retraso en el desarrollo y en la maduración ósea."},"it":{"name":"Sindrome da microduplicazione 5q35","synonyms":["Dup(5)(q35)","Trisomia 5q35"],"definition":"La microduplicazione 5q35 è una sindrome descritta recentemente, che associa microcefalia, bassa statura, ritardo dello sviluppo e della maturazione scheletrica."},"nl":{"name":"5q35-microduplicatiesyndroom","synonyms":["Dup(5)(q35)","Trisomie 5q35"],"definition":"Een syndroom, geassocieerd met microcefalie, kleine gestalte, ontwikkelingsachterstand, en vertraagde botmaturatie."},"pt":{"name":"Síndrome de microduplicação 5q35","definition":"A síndrome de microduplicação 5q35 recentemente descrita está associada a microcefalia, baixa estatura, atraso no desenvolvimento e maturação óssea atrasada."},"pl":{"name":"Zespół mikroduplikacji 5q35","synonyms":["Dup(5)(q35)","Trisomia 5q35"]},"cs":{"name":"5q35 mikroduplikační syndrom","synonyms":["Dup(5)(q35)","Trizomie 5q35"]},"uk":{"name":"Синдром мікродуплікації 5q35","synonyms":["Dup(5)(q35)","Трисомія 5q35"],"definition":"The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation."},"zh":{"name":"5q35微重复综合征","synonyms":["5q35三体"],"definition":"最近报道5q35微冲重复综合征与小头畸形、身材矮小、发育迟缓和骨成熟延迟相关。"},"tr":{"name":"5q35 mikroduplikasyon sendromu","synonyms":["Dup (5) (q35)","Trizomi 5q35"]}},"xrefs":[{"source":"ICD-10","code":"Q92.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD41.40","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2130236547"},{"source":"MONDO","code":"0016461","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304526","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262869,"name":"Partial duplication of the long arm of chromosome 5 syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"NSD1","name":"nuclear receptor binding SET domain protein 1","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"24819041[PMID]","hgnc":"14234","ensembl":"ENSG00000165671","omim":"606681","loci":["5q35.3"]}],"genes_via_subtypes":[],"inheritance":["Not applicable","Unknown"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":30.0,"area":"Worldwide","status":"Validated","source":"24819041[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24819041[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001510","label":"Growth delay","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:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null}]}}