{"orpha":96061,"name":"Mosaic trisomy 8 syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Mosaic trisomy chromosome 8","Trisomy 8 mosaicism","Warkany syndrome"],"definition":"A rare autosomal anomaly defined by the presence of three copies of chromosome 8 in some cells of the body, and clinically characterized by facial dysmorphism, typically deep palmar and plantar creases, mild intellectual deficit and joint, urinary, cardiac and skeletal anomalies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-96061/","orphanet_url":"https://www.orpha.net/en/disease/detail/96061","names":{"fr":{"name":"Syndrome de trisomie 8 en mosaïque","synonyms":["Syndrome de Warkany","Trisomie du chromosome 8 en mosaïque"],"definition":"Anomalie autosomique rare définie par la présence de trois copies du chromosome 8 dans certaines cellules de l'organisme, caractérisée cliniquement par une dysmorphie faciale, des plis palmaires et plantaires généralement profonds, une légère déficience intellectuelle et des anomalies articulaires, urinaires, cardiaques et squelettiques."},"de":{"name":"Mosaik-Trisomie 8","synonyms":["Mosaik-Trisomie Chromosom 8","Warkany-Syndrom"],"definition":"Eine seltene autosomale Chromosomenanomalie, die durch das Vorhandensein von drei Kopien des Chromosoms 8 in einigen Körperzellen definiert ist und klinisch durch Gesichtsdysmorphien, typischerweise tiefe Hand- und Fußsohlenfalten, leichte intellektuelle Defizite sowie Gelenk-, Harn-, Herz- und Skelettanomalien gekennzeichnet ist."},"es":{"name":"Síndrome de trisomía 8 en mosaico","synonyms":["Síndrome de Warkany","Trisomía del cromosoma 8 en mosaico"],"definition":"Es una anomalía autosómica poco frecuente definida por la presencia de tres copias del cromosoma 8 en algunas células del cuerpo, y clínicamente caracterizada por dismorfia facial, pliegues palmares y plantares profundos, déficit intelectual leve y anomalías articulares, urinarias, cardíacas y esqueléticas."},"it":{"name":"Sindrome trisomia 8 in mosaico","synonyms":["Trisomia del cromosoma 8 in mosaico","Sindrome di Warkany","Trisomia 8 in mosaico"],"definition":"Si tratta di un'anomalia autosomica rara, caratterizzata dalla presenza di tre copie del cromosoma 8 in alcune cellule dell'organismo. Dal punto di vista clinico, è caratterizzata da dismorfismi facciali, pliche palmari e plantari profonde, lieve deficit intellettivo e anomalie articolari, urinarie, cardiache e scheletriche."},"nl":{"name":"Mozaïektrisomie 8-syndroom","synonyms":["Mozaïektrisomie chromosoom 8","Syndroom van Warkany","Trisomie 8 mozaïcisme"],"definition":"Een zeldzame autosomale anomalie, gedefinieerd door de aanwezigheid van drie kopieën van chromosoom 8 in sommige lichaamscellen, en klinisch gekenmerkt door faciale dysmorfie, diepe huidlijnen van handpalm en voetzool, milde intellectuele achterstand, en anomalieën van gewrichten, urinewegen, hart en skelet."},"pt":{"name":"Trissomia 8 em mosaico","definition":"Anomalia autossómica rara definida pela presença de três cópias do cromossoma 8 em algumas células do corpo, e caracterizada clinicamente por dismorfismo facial, habitualmente com a presença de pregas palmares e plantares profundas, perturbação do desenvolvimento intelectual leve e anomalias articulares, urinárias, cardíacas e esqueléticas."},"pl":{"name":"Zespół mozaikowej trisomii chromosomu 8","synonyms":["Zespół Warkany"]},"cs":{"name":"Mozaiková trizomie 8","synonyms":["Warkanyho syndrom"]},"uk":{"name":"Мозаїчна трисомія 8","synonyms":["Мозаїчна трисомія хромосоми 8","Трисомія 8 мозаїцизм","Синдром Варкані"],"definition":"A rare autosomal anomaly defined by the presence of three copies of chromosome 8 in some cells of the body, and clinically characterized by facial dysmorphism, typically deep palmar and plantar creases, mild intellectual deficit and joint, urinary, cardiac and skeletal anomalies."},"zh":{"name":"8号染色体嵌合体","synonyms":["嵌合型8号染色体三体"],"definition":"嵌合型8号染色体三体是一种染色体疾病，定义为机体的部分细胞中8号染色体有3个拷贝，其特点是面部畸形、轻度智力缺陷和关节、泌尿、心脏和骨骼异常。"},"tr":{"name":"Mozaik trizomi 8","synonyms":["Warkany sendromu","Trizomi 8 mosaisizm","8. kromozomun mozaik trizomisi"]}},"xrefs":[{"source":"ICD-10","code":"Q92.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD40.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0019867","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537940","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1096527","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5359","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10053916","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98131,"name":"Total autosomal trisomy syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable","Unknown"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009738","label":"Abnormality of the antihelix","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000455","label":"Broad nasal tip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006191","label":"Deep palmar crease","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001869","label":"Deep plantar creases","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000276","label":"Long face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000774","label":"Narrow chest","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003275","label":"Narrow pelvis bone","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006443","label":"Patellar aplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003422","label":"Vertebral segmentation defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000076","label":"Vesicoureteral reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000445","label":"Wide nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002804","label":"Arthrogryposis multiplex congenita","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008734","label":"Decreased testicular size","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001010","label":"Hypopigmentation of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001053","label":"Hypopigmented skin patches","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000098","label":"Tall stature","frequency":"Occasional (29-5%)","criteria":null}]}}