{"orpha":3375,"name":"Trisomy X syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["47,XXX syndrome","Triplo-X syndrome","XXX syndrome"],"definition":"A rare sex-chromosome anomaly characterized by a variable phenotype, including various degree of global developmental delay, tall stature, epicanthal folds, hypotonia, and clinodactyly in association with seizures, renal and genitourinary abnormalities, and premature ovarian failure (POF).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3375/","orphanet_url":"https://www.orpha.net/en/disease/detail/3375","names":{"fr":{"name":"Syndrome de trisomie x","synonyms":["Syndrome 47,XXX","Syndrome XXX","Syndrome triplo-X"],"definition":"Anomalie des gonosomes rare caractérisée par un phénotype variable, comprenant divers degrés de retard global de développement, une grande taille, un épicanthus, une hypotonie et une clinodactylie, associés à des crises épileptiques, des anomalies rénales et génito-urinaires, ainsi qu'une insuffisance ovarienne prématurée (IOP)."},"de":{"name":"Triple-X-Syndrom","synonyms":["47,XXX-Syndrom","Triplo-X-Syndrom","Trisomie X","XXX-Syndrom"],"definition":"Eine seltene Geschlechtschromosomen-Anomalie, die durch einen variablen Phänotyp gekennzeichnet ist, der verschiedene Grade von globaler Entwicklungsverzögerung, Hochwuchs, Epikanthusfalten, Hypotonie und Klinodaktylie in Verbindung mit Krampfanfällen, Nieren- und Urogenitalanomalien und vorzeitigem Eierstockversagen (POF) umfasst."},"es":{"name":"Síndrome de trisomía X","synonyms":["Síndrome 47,XXX","Síndrome Triplo-X","Síndrome XXX"],"definition":"Es una alteración de los cromosomas sexuales caracterizada por un fenotipo variable que incluye talla alta, anomalías renales y genitourinarias y fallo ovárico prematuro (FOP)."},"it":{"name":"Sindrome trisomia X","synonyms":["Sindrome 47,XXX","Sindrome XXX","Sindrome del triplo X"]},"nl":{"name":"Trisomie X-syndroom","synonyms":["47,XXX-syndroom","Triple X-syndroom","Triplo-X-syndroom","XXX-syndroom"],"definition":"Een zeldzame anomalie van een geslachtschromosoom, gekenmerkt door een variabel fenotype, met onder meer verschillende gradaties van ontwikkelingsachterstand, lange gestalte, epicanthusplooien, hypotonie, en clinodactylie in associatie met insulten, renale en urogenitale afwijkingen, en prematuur ovariumfalen (POF)."},"pt":{"name":"Trissomia X","synonyms":["Síndrome 47 XXX","Triplo X"],"definition":"A trissomia X é uma anomalia dos cromossomas sexuais com um fenótipo variável causada pela presença de um cromossoma X extra em indivíduos do sexo feminino (47,XXX em vez de 46,XX)."},"pl":{"name":"Zespół trisomii chromosomu X","synonyms":["Zespół 47,XXX","Zespół potrójnego X","Zespół XXX"]},"cs":{"name":"Trizomie X","synonyms":["47,XXX syndrom","Triple X syndrom","XXX syndrom","Syndrom tří X"]},"uk":{"name":"Трисомія X","synonyms":["47,XXX синдром","Синдром потрійного Х","Синдром трипло-Х","Синдром ХХХ"],"definition":"Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX)."},"zh":{"name":"X染色体三倍体","synonyms":["3X染色体综合征"]},"tr":{"name":"Trizomi X","synonyms":["XXX sendromu","47, XXX sendromu","Üçlü X sendromu","Triplo-X sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q97.0","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LD50.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"423644907"},{"source":"MONDO","code":"0018066","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535318","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0221033","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5672","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10076910","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":263723,"name":"Polysomy of X chromosome syndrome","classifications":[147,156]},{"orpha":399853,"name":"Rare female infertility due to an anomaly of ovarian function","classifications":[201]},{"orpha":400022,"name":"Rare female infertility due to an anomaly of ovarian function of genetic origin","classifications":[156]},{"orpha":485382,"name":"Rare genetic premature ovarian failure","classifications":[156]},{"orpha":95710,"name":"Rare non-acquired premature ovarian failure","classifications":[193,205]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":42.5,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-08-11","source":"20459843[PMID]","terms":[{"hpo":"HP:0002916","label":"Abnormality of chromosome segregation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000098","label":"Tall stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001385","label":"Hip dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000003","label":"Multicystic kidney dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008209","label":"Premature ovarian insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008678","label":"Renal hypoplasia/aplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000869","label":"Secondary amenorrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000826","label":"Precocious puberty","frequency":"Very rare (<4-1%)","criteria":null}]}}