{"orpha":231137,"name":"Silver-Russell syndrome due to 7p11.2p13 microduplication","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Silver-Russell syndrome due to 7p11.2-p13 microduplication","Silver-Russell syndrome due to dup(7)(p11.2p13)","Silver-Russell syndrome due to trisomy 7p11.2-p13","Silver-Russell syndrome due to trisomy 7p11.2p13"],"definition":null,"note":"This disease is described under Silver-Russell syndrome","url":"https://raremap.alftech.space/d/ORPHA-231137/","orphanet_url":"https://www.orpha.net/en/disease/detail/231137","names":{"fr":{"name":"Syndrome de Silver-Russell dû à une microduplication 7p11.2p13","synonyms":["Syndrome de Silver-Russell dû à une trisomie 7p11.2p13","Syndrome de Silver-Russell dû à une dup(7)(p11.2p13)","Syndrome de Silver-Russell dû à une microduplication 7p11.2-p13","Syndrome de Silver-Russell dû à une trisomie 7p11.2-p13"]},"de":{"name":"Silver-Russell-Syndrom durch Mikrodeletion 7p11.2p13","synonyms":["Silver-Russell-Syndrom durch Trisomie 7p11.2-p13","Silver-Russell-Syndrom durch dup(7)(p11.2p13)"]},"es":{"name":"Síndrome de Silver-Russell por microduplicación 7p11.2p13","synonyms":["Síndrome de Silver-Russell por dup(7)(p11.2p13)","Síndrome de Silver-Russell por microduplicación 7p11.2-p13","Síndrome de Silver-Russell por trisomía 7p11.2-p13","Síndrome de Silver-Russell por trisomía 7p11.2p13"]},"it":{"name":"Sindrome di Silver-Russell da microduplicazione 7p11.2p13","synonyms":["Sindrome di Silver-Russell da dup(7)(p11.2p13)","Sindrome di Silver-Russell da microduplicazione 7p11.2-p13","Sindrome di Silver-Russell da trisomia 7p11.2-p13","Sindrome di Silver-Russell da trisomia 7p11.2p13"]},"nl":{"name":"Syndroom van Silver-Russell als gevolg van 7p11.2p13 microduplicatie","synonyms":["Syndroom van Silver-Russell als gevolg van 7p11.2-p13 microduplicatie","Syndroom van Silver-Russell als gevolg van dup(7)(p11.2p13)","Syndroom van Silver-Russell als gevolg van trisomie 7p11.2-p13","Syndroom van Silver-Russell als gevolg van trisomie 7p11.2p13"]},"pt":{"name":"Síndrome de Silver-Russell por microduplicação 7p12"},"pl":{"name":"Zespół Silvera i Russella z powodu mikroduplikacji 7p11.2p13","synonyms":["Zespół Silvera i Russella z powodu dup(7)(p11.2p13)","Zespół Silvera i Russella z powodu mikroduplikacji 7p11.2-p13","Zespół Silvera i Russella z powodu trisomii 7p11.2p13","Zespół Silvera i Russella z powodu trisomii 7p11.2-p13"]},"cs":{"name":"Silverův-Russellův syndrom způsobený mikroduplikací 7p11.2p13","synonyms":["Silverův-Russellův syndrom způsobený mikroduplikací 7p11.2-p13","Silverův-Russellův syndrom způsobený dup(7)(p11.2p13)","Silverův-Russellův syndrom způsobený trizomií 7p11.2-p13","Silverův-Russellův syndrom způsobený trizomií 7p11.2p13","Silver-Russellův syndrom způsobený mikroduplikací 7p11.2p13","Silver-Russellův syndrom způsobený mikroduplikací 7p11.2-p13","Silver-Russellův syndrom způsobený dup(7)(p11.2p13)","Silver-Russellův syndrom způsobený trisomií 7p11.2-p13","Silver-Russellův syndrom způsobený trisomií 7p11.2p13"]},"uk":{"name":"Синдром Сільвера-Рассела, зумовлений мікродуплікацією 7p11.2p13","synonyms":["Синдром Сільвера-Рассела внаслідок мікродуплікації 7p11.2-p13","Синдром Сільвера-Рассела внаслідок dup(7)(p11.2p13)","Синдром Сільвера-Рассела внаслідок трисомії 7p11.2p13","Синдром Сільвера-Рассела внаслідок трисомії 7p11.2-p13"]},"zh":{"name":"7p11.2p13微重复所致Silver-Russell综合征","synonyms":["7p11.2p-13微重复所致Silver-Russell综合征"]},"tr":{"name":"7p11.2p13 mikroduplikasyonuna bağlı Silver-Russell sendromu","synonyms":["dup(7)(p11.2p13)'e bağlı Silver-Russell sendromu","Trizomi 7p11.2p13'e bağlı Silver-Russell sendromu","Trizomi 7p11.2-p13'e bağlı Silver-Russell sendromu","7p11.2-p13 mikroduplikasyonuna bağlı Silver-Russell sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0016479","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679840","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262749,"name":"Partial duplication of the short arm of chromosome 7 syndrome","classifications":[147,156]},{"orpha":813,"name":"Silver-Russell syndrome","classifications":[147,156,181,189,202]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-11-20","source":"10987657[PMID]_10631135[PMID]_28764823[PMID]_27585961[PMID]","terms":[{"hpo":"HP:0000592","label":"Blue sclerae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000307","label":"Pointed chin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004482","label":"Relative macrocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000331","label":"Short chin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002213","label":"Fine hair","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011471","label":"Gastrostomy tube feeding in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009890","label":"High anterior hairline","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000975","label":"Hyperhidrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001943","label":"Hypoglycemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006889","label":"Intellectual disability, borderline","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000066","label":"Labial hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000527","label":"Long eyelashes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011342","label":"Mild global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001786","label":"Narrow foot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000460","label":"Narrow nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001212","label":"Prominent fingertip pads","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000325","label":"Triangular face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Occasional (29-5%)","criteria":null}]}}