{"orpha":11,"name":"Pentasomy X syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["49,XXXXX syndrome","Penta-X","Poly-X"],"definition":"A rare sex-chromosome number anomaly characterized by the presence of five X chromosomes in females instead of the usual two. Patients present with global developmental delay, intellectual disability, musculoskeletal abnormalities (mostly small hands and feet, camptodactyly, clinodactyly, radioulnar synostosis), and craniofacial anomalies (such as microcephaly, plagiocephaly, upslanting palpebral fissures, hypertelorism, flat nasal bridge, ear malformations, microganthia). Cardiovascular malformations can sometimes be present as well as immunoglobulin anomalies and an increased susceptibility to infections. External genitalia are generally normal but gonadal dysfunction has been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-11/","orphanet_url":"https://www.orpha.net/en/disease/detail/11","names":{"fr":{"name":"Syndrome de pentasomie x","synonyms":["Penta-X","Poly-X","Syndrome 49,XXXXX"],"definition":"Anomalie rare de nombre des gonosomes caractérisée par la présence de cinq chromosomes X chez les femmes au lieu des deux habituels. Les patientes présentent un retard global de développement, une déficience intellectuelle, des anomalies musculo-squelettiques (principalement des mains et des pieds petits, une camptodactylie, une clinodactylie, une synostose radio-ulnaire) et des anomalies craniofaciales (microcéphalie, plagiocéphalie, fentes palpébrales orientées vers le haut, hypertélorisme, pont nasal plat, malformations de l'oreille, microganthie). Des malformations cardiovasculaires peuvent parfois être présentes, ainsi que des anomalies des immunoglobulines et une susceptibilité accrue aux infections. Les organes génitaux externes sont généralement normaux, mais des cas de dysfonctionnement gonadique ont été rapportés."},"de":{"name":"Pentasomie X","synonyms":["49,XXXXX-Syndrom","Penta-X-Syndrom","Poly-X-Syndrom"],"definition":"Die Pentasomie X ist eine Geschlechtschromosomen-Anomalie. Die weiblichen Patienten haben drei zusätzliche X-chromosomen (49, XXXXX statt 46, XX)."},"es":{"name":"Síndrome de pentasomía X","synonyms":["Penta-X","Poli-X","Síndrome 49,XXXXX"],"definition":"La pentasomía X es una anomalía de los cromosomas sexuales causada por la presencia de tres cromosomas X adicionales en las mujeres (49, XXXXX en lugar de 46, XX)."},"it":{"name":"Sindrome pentasomia X","synonyms":["Penta-X","Poli-X","Sindrome 49,XXXXX"]},"nl":{"name":"Pentasomie X-syndroom","synonyms":["49,XXXXX-syndroom","Penta-X","Poly-X"],"definition":"Pentasomie X is een anomalie van geslachtschromosoom veroorzaakt door de aanwezigheid van drie extra X-chromosomen bij vrouwen (49,XXXXX in plaats van 46,XX)."},"pt":{"name":"Pentassomia X","synonyms":["Síndrome 49,XXXXX","Síndrome Penta X"],"definition":"A pentassomia X é uma anomalia dos cromossomas sexuais causada pela presença de três cromossomas X extra em indivíduos do sexo feminino (49,XXXXX em vez de 46,XX)."},"pl":{"name":"Zespół pantasomii chromosomu X","synonyms":["Penta X","Poli X","Zespół 49,XXXXX"]},"cs":{"name":"Pentazomie X","synonyms":["49,XXXXX syndrom","Penta-X","Poly-X"]},"uk":{"name":"Пентасомія X","synonyms":["49,XXXXX синдром","Пента-Х","Poly-X"],"definition":"Pentasomy X is a sex chromosome anomaly caused by the presence of three extra X chromosomes in females (49,XXXXX instead of 46,XX)."},"zh":{"name":"X染色体五倍体","synonyms":["49,XXXXX综合征"]},"tr":{"name":"Pentazomi X","synonyms":["Poly-X","Penta-X","49, XXXXX 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":"2087864894"},{"source":"MONDO","code":"0015228","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535319","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2937419","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5678","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]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","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:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001357","label":"Plagiocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002974","label":"Radioulnar synostosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001773","label":"Short foot","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200055","label":"Small hand","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:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001671","label":"Abnormal cardiac septum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010978","label":"Abnormality of immune system physiology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001385","label":"Hip dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null}]}}