{"orpha":329802,"name":"5p13 microduplication syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Dup(5)(p13)","Trisomy 5p13"],"definition":"A rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-329802/","orphanet_url":"https://www.orpha.net/en/disease/detail/329802","names":{"fr":{"name":"Syndrome de microduplication 5p13","synonyms":["Dup(5)(p13)","Trisomie 5p13"],"definition":"Trisomie/tétrasomie partielle rare des autosomes caractérisée par un retard global de développement, une déficience intellectuelle, un comportement de type autistique, une hypotonie musculaire, une macrocéphalie et une dysmorphie faciale (front proéminent, fentes palpébrales courtes, oreilles dysplasiques d'implantation basse, philtrum court ou peu profond, palais ogival ou étroit, micrognathie). Sont par ailleurs associées les caractéristiques cliniques suivantes : troubles du sommeil, crises convulsives, aplasie/hypoplasie du corps calleux et anomalies squelettiques (mains et pieds larges, doigts et orteils longs, pieds bots)."},"de":{"name":"Mikroduplikationssyndrom 5p13","synonyms":["Dup(5)(p13)","Trisomie 5p13"]},"es":{"name":"Síndrome de microduplicación 5p13","synonyms":["Dup(5)(p13)","Trisomía 5p13"],"definition":"Es una alteración cromosómica poco frecuente, caracterizada por retraso global del desarrollo, discapacidad intelectual, comportamiento autista, hipotonía muscular, macrocefalia y dismorfia facial (frente prominente, fisuras palpebrales cortas, orejas displásicas de implantación baja, surco nasolabial corto o poco profundo, paladar ojival, micrognatia). Otros hallazgos clínicos asociados incluyen trastornos del sueño, convulsiones, aplasia / hipoplasia del cuerpo calloso, así como anomalías esqueléticas (manos y pies grandes, dedos largos, pies zambos)."},"it":{"name":"Síndrome da microduplicazione 5p13","synonyms":["Dup(5)(p13)","Trisomia 5p13"],"definition":"La sindrome da microduplicazione 5p13 è una trisomia/tetrasomia autosomica parziale rara, caratterizzata da ritardo dello sviluppo globale, disabilità intellettiva, tratti autistici, ipotonia muscolare, macrocefalia e dismorfismi facciali (fronte bombata, rime palpebrali corte, orecchie displastiche a basso impianto, filtro corto o poco profondo, palato ogivale o stretto, micrognazia). Altri segni clinici comprendono i disturbi del sonno, le crisi epilettiche, l'aplasia/ipoplasia del corpo calloso e le anomalie scheletriche (mani e piedi grandi, dita delle mani e dei piedi lunghe, talo)."},"nl":{"name":"5p13-microduplicatiesyndroom","synonyms":["Dup(5)(p13)","Trisomie 5p13"],"definition":"Een zeldzame, partiële, autosomale trisomie/tetrasomie, gekarakteriseerd door algehele ontwikkelingsachterstand, intellectuele achterstand, autistisch gedrag, musculaire hypotonie, macrocefalie en faciale dysmorfie (boller voorhoofd, korte ooglidspleten, laagstaande en dysplastische oren, kort of ondiep filtrum, hoog gebogen of smal verhemelte, micrognathie). Andere geassocieerde klinische kenmerken zijn onder meer slaapstoornissen, insulten, aplasie/hypoplasie van corpus callosum, skeletafwijkingen (grote handen en voeten, lange vingers en tenen, talipes)."},"pt":{"name":"Sídrome de microduplicação 5p13"},"pl":{"name":"Zespół mikroduplikacji 5p13","synonyms":["Dup(5)(p13)","Trisomia 5p13"]},"cs":{"name":"Mikroduplikační syndrom 5p13","synonyms":["Dup(5)(p13)","Trizomie 5p13"]},"uk":{"name":"Синдром мікродуплікації 5р13","synonyms":["Dup(5)(p13)","Трисомія 5р13"],"definition":"A rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes)."},"zh":{"name":"5p13微复制综合征","synonyms":["5p13三体"],"definition":"一种罕见的部分常染色体三体/四体症，其特征是整体发育迟缓、智力障碍、自闭症行为、肌张力减退、巨颅畸形和面部畸形（前额隆起、睑裂短、耳低位且发育不良、人中短而浅、腭高拱而窄、小颌畸形）。其他相关的临床特征包括睡眠障碍、癫痫、胼胝体不发育/发育不全、骨骼异常（大手和大脚、长手指和脚趾、畸形足）。"},"tr":{"name":"5p13 mikroduplikasyon sendromu","synonyms":["Dup(5)(p13)","Trizomi 5p13"]}},"xrefs":[{"source":"OMIM","code":"613174","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q92.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013169","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749507","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":262725,"name":"Partial duplication/triplication of the short arm of chromosome 5 syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"NIPBL","name":"NIPBL cohesin loading factor","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"23085304[PMID]","hgnc":"28862","ensembl":"ENSG00000164190","omim":"608667","loci":["5p13.2"]}],"genes_via_subtypes":[],"inheritance":["Not applicable","Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"20052029[PMID]_21211577[PMID]_23085304[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}