{"orpha":96063,"name":"Mosaic trisomy 10 syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Mosaic trisomy chromosome 10","Trisomy 10 mosaicism"],"definition":"Mosaic trisomy 10 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by growth delay, craniofacial dysmorphism (incl. prominent forehead, hypertelorism, upslanting palpebral fissures, blepharophimosis, low-set malformed large ears, high arched palate, cleft lip/palate, retrognathia) and cardiac, renal and skeletal (e.g. radial ray defects, scoliosis) malformations, with death usually ocurring neonatally or in early infancy. Other reported features include central nervous system and ear anomalies, as well as facial clefts and anal atresia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-96063/","orphanet_url":"https://www.orpha.net/en/disease/detail/96063","names":{"fr":{"name":"Syndrome de trisomie 10 en mosaïque","definition":"Un syndrome rare d'anomalie chromosomique, de phénotype très variable. Il se caractérise principalement par un retard de croissance, une dysmorphie craniofaciale (incluant un front proéminent, un hypertélorisme, des fentes palpébrales obliques en haut et en dehors, un blépharophimosis, de larges oreilles malformées, implantées basses, un palais ogival, une fente labiale/palatine, une rétrognathie), ainsi que des malformations cardiaques, rénales et squelettiques (comme des anomalies du rayon radial, une scoliose). Le syndrome est généralement fatal pendant la période néonatale, ou tôt dans la petite enfance. Les autres signes rapportés incluent des anomalies de l'oreille et du système nerveux central, des fentes faciales et une atrésie anale."},"de":{"name":"Mosaik-Trisomie 10","synonyms":["Mosaik-Trisomie Chromosom 10"],"definition":"Die Mosaik-Trisomie 10 ist eine seltene Chromosomenanomalie mit einem sehr variablen Phänotyp, der in der Regel zum frühen Tod (neonatal oder im frühen Kindesalter) führt. Zu den hauptsächlichen Merkmalen zählen Wachstumsverzögerung, kraniofaziale Dysmorphien (inkl. prominente Stirn, Hypertelorismus, schräg verlaufende Lidspalten, Blepharophimose, tief angesetzte fehlgebildete große Ohren, hochgewölbter Gaumen, Lippen-Kiefer-Gaumenspalte, Retrognathie) sowie Herz-, Nieren- und Skelettfehlbildungen (z. B. Radialstrahlendefekte, Skoliose). ZNS-Anomalien sowie Gesichtsspalten und Analatresie können ebenfalls assoziiert sein."},"es":{"name":"Síndrome de trisomía 10 en mosaico","synonyms":["Trisomía del cromosoma 10 en mosaico"],"definition":"La trisomía 10 en mosaico es un síndrome por anomalía cromosómica poco frecuente, con un fenotipo muy variable, caracterizado principalmente por retraso del crecimiento, dismorfia craneofacial (incluyendo frente prominente, hipertelorismo, fisuras palpebrales inclinadas hacia arriba, blefarofimosis, orejas grandes malformadas de baja implantación, paladar alto y arqueado, labio leporino/paladar hendido, retrognatia) y malformaciones cardiacas, renales y esqueléticas (p. ej., defectos del rayo radial, escoliosis). Por lo general, el fallecimiento tiene lugar en la etapa neonatal o en la primera infancia. Otras características descritas incluyen anomalías del sistema nervioso central y del oído, así como hendiduras faciales y atresia anal."},"it":{"name":"Sindrome trisomia 10 in mosaico","synonyms":["Trisomia del cromosoma 10 in mosaico","Trisomia 10 in mosaico"],"definition":"La trisomia 10 in mosaico è un'anomalia cromosomica rara; il quadro clinico è molto variabile ed è caratterizzato prevalentemente da ritardo della crescita, dismorfismi craniofacciali (fronte prominente, ipertelorismo, rime palpebrali oblique verso l'alto, blefarofimosi, orecchie grandi, malformate e a basso impianto, palato ogivale, labio/palatoschisi, retrognazia), cardiopatie e malformazioni renali e scheletriche (difetti del radio, scoliosi). Di solito il decesso avviene nel periodo neonatale o nella prima infanzia. Altri possibili segni clinici sono le anomalie del sistema nervoso centrale e dell'orecchio, le schisi facciali e l'atresia anale."},"nl":{"name":"Mozaïektrisomie 10-syndroom","synonyms":["Mozaïektrisomie chromosoom 10","Trisomie 10 mozaïcisme"],"definition":"Mozaïektrisomie 10 is een zeldzaam syndroom met een chromosomale anomalie dat een hoogst variabel fenotype vertoont, voornamelijk gekarakteriseerd door groeiachterstand, craniofaciale dysmorfie (incl. uitgesproken voorhoofd, hypertelorisme, opwaartse ooglidspleten, blefarofimose, laagstaande, misvormde en grote oren, hoog gebogen verhemelte, gespleten lip/verhemelte, retrognathie) en malformaties van het hart, de nieren en het skelet (e.g. radiale straaldefecten, scoliose), en waarbij overlijden meestal neonataal of in de vroege zuigelingentijd optreedt. Overige gerapporteerde kenmerken zijn onder meer anomalieën van het centrale zenuwstelsel en de oren, alsook gezichtsspleten en anusatresie."},"pt":{"name":"Trissomia 10 em mosaico"},"pl":{"name":"Zespół mozaikowej trisomii chromosomu 10","synonyms":["Mosaic trisomy chromosome 10","Trisomy 10 mosaicism"]},"cs":{"name":"Mozaiková trizomie 10","synonyms":["Mosaic trisomy chromosome 10","Trisomy 10 mosaicism"]},"uk":{"name":"Мозаїчна трисомія 10","synonyms":["Мозаїчна трисомія хромосоми 10","Трисомія 10 мозаїцизм"],"definition":"Mosaic trisomy 10 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by growth delay, craniofacial dysmorphism (incl. prominent forehead, hypertelorism, upslanting palpebral fissures, blepharophimosis, low-set malformed large ears, high arched palate, cleft lip/palate, retrognathia) and cardiac, renal and skeletal (e.g. radial ray defects, scoliosis) malformations, with death usually ocurring neonatally or in early infancy. Other reported features include central nervous system and ear anomalies, as well as facial clefts and anal atresia."},"zh":{"name":"10号染色体嵌合体","synonyms":["嵌合型10号染色体三体"],"definition":"嵌合型10号染色体三体是一种罕见的染色体异常综合征，具有高度多变的表型，主要表现为生长迟缓、颅面畸形（包括前额突出、眼间距过宽、上睑裂、睑裂狭小、低位畸形大耳、高腭弓、唇腭裂、下颌后缩畸形）和心脏、肾脏、骨骼（如放射线缺陷、脊柱侧凸）畸形，患儿通常在新生儿期或婴儿早期死亡。其他报道的特征包括中枢神经系统和耳朵异常，以及面裂和肛门闭锁。"},"tr":{"name":"Mozaik trizomi 10","synonyms":["Trizomi 10 mosaisizm","10. 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":"0019868","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931794","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":[],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"30081864[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"30081864[PMID]_ORPHANET"}],"phenotypes":null}