{"orpha":9,"name":"Tetrasomy X syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["48,XXXX syndrome","Quadruple X","Tetra X"],"definition":"Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-9/","orphanet_url":"https://www.orpha.net/en/disease/detail/9","names":{"fr":{"name":"Syndrome de tétrasomie x","synonyms":["Quadruple X","Syndrome 48,XXXX","Tétra X"],"definition":"La tétrasomie X est une anomalie du chromosome sexuel X, due à la présence de deux chromosomes X surnuméraires chez des femmes (48,XXXX au lieu de 46,XX)."},"de":{"name":"Tetrasomie X","synonyms":["48,XXXX-Syndrom","Tetra-X-Syndrom"],"definition":"Die Tetrasomie X ist eine Geschlechtschromosomen-Anomalie. Die weiblichen Patienten haben zwei zusätzliche X-Chromosomen (48, XXXX statt 46, XX)."},"es":{"name":"Síndrome de tetrasomía X","synonyms":["Síndrome 48,XXXX","Tetra X","X cuádruple"],"definition":"La tetrasomía X es una anomalía de los cromosomas sexuales causada por la presencia de dos cromosomas X adicionales en mujeres (48,XXXX en lugar de 46,XX)."},"it":{"name":"Sindrome tetrasomia X","synonyms":["Quadruplo X","Sindrome 48,XXXX","Tetra X"]},"nl":{"name":"Tetrasomie X-syndroom","synonyms":["48,XXXX-syndroom","Quadrupel X","Tetra X"],"definition":"Tetrasomie X is een anomalie van geslachtschromosoom veroorzaakt door de aanwezigheid van twee extra X-chromosomen bij vrouwen (48,XXXX in plaats van 46,XX)."},"pt":{"name":"Tetrassomia X","synonyms":["Síndrome 48,XXXX"],"definition":"A tetrassomia X é uma anomalia dos cromossomas sexuais causada pela presença de dois cromossomas X extra em indivíduos do sexo feminino (48,XXXX, em vez de 46,XX)."},"pl":{"name":"Zespół tetrasomii chromosomu X","synonyms":["Tetra X","Zespół 48,XXXX"]},"cs":{"name":"Tetrazomie X","synonyms":["48, XXXX syndrom","Quadruple X","Tetra X"]},"uk":{"name":"Тетрасомія X","synonyms":["48,XXXX синдром","Чотири X","Tetra X"],"definition":"Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX)."},"zh":{"name":"X染色体四倍体","synonyms":["48,XXXX综合征"]},"tr":{"name":"Tetrazomi X","synonyms":["Tetra X","Dörtlü X","48,XXXX sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q97.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD50.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1181464236"},{"source":"MONDO","code":"0019525","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536502","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265496","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7754","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":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":50.0,"area":"Worldwide","status":"Validated","source":"23494840[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_23494840[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002974","label":"Radioulnar synostosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010978","label":"Abnormality of immune system physiology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001385","label":"Hip dysplasia","frequency":"Occasional (29-5%)","criteria":null}]}}