{"orpha":294026,"name":"Syndactyly-nystagmus syndrome due to 2q31.1 microduplication","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Syndactyly-nystagmus syndrome due to dup(2)(q31.1)","Syndactyly-nystagmus syndrome due to trisomy 2q31.1"],"definition":"A rare, genetic, chromosomal anomaly syndrome resulting from partial duplication of the long arm of chromosome 2 characterized by congenital pendular nystagmus associated with bilateral cutaneous syndactyly between the third and fourth fingers.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-294026/","orphanet_url":"https://www.orpha.net/en/disease/detail/294026","names":{"fr":{"name":"Syndrome de syndactylie-nystagmus dû à une microduplication 2q31.1","synonyms":["Syndrome de syndactylie-nystagmus dû à une dup(2)(q31.1)","Syndrome de syndactylie-nystagmus dû à une trisomie 2q31.1"],"definition":"Syndrome d'anomalie chromosomique rare d'origine génétique résultant d'une duplication partielle du bras long du chromosome 2, caractérisé par un nystagmus pendulaire congénital associé à une syndactylie cutanée bilatérale entre les 3<sup>es</sup> et 4<sup>es</sup> doigts."},"de":{"name":"Syndaktylie-Nystagmus-Syndrom durch Mikroduplikation 2q31.1","synonyms":["Syndaktylie-Nystagmus-Syndrom durch Trisomie 2q31.1","Syndaktylie-Nystagmus-Syndrom durch dup(2)(q31.1)"]},"es":{"name":"Síndrome de sindactilia-nistagmo por microduplicación 2q31.1","synonyms":["Síndrome de sindactilia-nistagmo por dup(2)(q31.1)","Síndrome de sindactilia-nistagmo por trisomía 2q31.1"],"definition":"Es un síndrome por anomalías cromosómicas poco frecuente y genético causado por la duplicación parcial del brazo largo del cromosoma 2. Está caracterizado por nistagmo pendular congénito asociado a sindactilia cutánea bilateral entre los dedos tercero y cuarto de las manos."},"it":{"name":"Sindrome sindattilia - nistagmo da microduplicazione 2q31.1","definition":"È un'anomalia cromosomica rara, di origine genetica, causata dalla duplicazione parziale del braccio lungo del cromosoma 2; è caratterizzata da nistagmo pendolare congenito associato a sindattilia cutanea bilaterale tra il terzo e quarto dito della mano."},"nl":{"name":"Syndactylie - nystagmus-syndroom door 2q31.1 microduplicatie","synonyms":["Syndactylie - nystagmus-syndroom door dup(2)(q31.1)","Syndactylie - nystagmus-syndroom door trisomie 2q31.1"],"definition":"Een zeldzaam, genetisch syndroom met een chromosomale anomalie als gevolg van partiële duplicatie van de lange arm van chromosoom 2, gekarakteriseerd door congenitale pendelnystagmus geassocieerd met bilaterale cutane syndactylie tussen de derde en vierde vingers."},"pt":{"name":"Síndrome de microduplicação 2q31.1","synonyms":["Trissomia 2q31.1","Dup(2)(q31.1)"]},"pl":{"name":"Zespół mikroduplikacji 2q31.1","synonyms":["Dup(2)(q31.1)","Trisomia 2q31.1"]},"cs":{"name":"Mikroduplikační syndrom 2q31.1","synonyms":["Dup(2)(q31.1)","Trizomie 2q31.1"]},"uk":{"name":"Синдром синдактилії-ністагму внаслідок мікродуплікації 2q31.1","synonyms":["Синдром синдактилії-ністагму внаслідок dup(2)(q31.1)","Синдром синдактилії-ністагму внаслідок трисомії 2q31.1"],"definition":"A rare, genetic, chromosomal anomaly syndrome resulting from partial duplication of the long arm of chromosome 2 characterized by congenital pendular nystagmus associated with bilateral cutaneous syndactyly between the third and fourth fingers."},"zh":{"name":"2q31.1微重复引起的并指-眼球震颤综合征","synonyms":["2q31.1三体所致并指-眼球震颤综合征"],"definition":"一种罕见的遗传性染色体异常综合征，由2号染色体长臂部分重复所致，特征是先天性钟摆样眼球震颤，食指中指之间的皮性并指畸形。"},"tr":{"name":"2q31.1 mikroduplikasyonu kaynaklı sindaktili-nistagmus sendromu","synonyms":["Dup (2) (q31.1)'e bağlı sindaktili-nistagmus sendromu","Trizomi 2q31.1'e bağlı sindaktili-nistagmus sendromu"]}},"xrefs":[{"source":"OMIM","code":"613681","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q92.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013363","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190993","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262842,"name":"Partial duplication of the long arm of chromosome 2 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"21654727[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_21654727[PMID]"}],"phenotypes":null}