{"orpha":1706,"name":"Mosaic trisomy 15 syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Mosaic trisomy chromosome 15","Trisomy 15 mosaicism"],"definition":"Mosaic trisomy 15 is a rare chromosomal anomaly syndrome principally characterized by intrauterine growth restriction, congenital cardiac anomalies (incl. ventricular and atrial septal defects, patent ductus arteriosus) and craniofacial dysmorphism (incl. hypertelorism, downslanting palpebral fissures, wide nasal bridge). Patients also present brain (e.g. hypoplastic cerebellum, ventricular asymmetry), renal (e.g. small dysplastic kidneys), and/or genital (undescended testis, small penis, hypoplastic labia majora) anomalies. Digital and skin pigmentation abnormalities have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1706/","orphanet_url":"https://www.orpha.net/en/disease/detail/1706","names":{"fr":{"name":"Syndrome de trisomie 15 en mosaïque","definition":"Un syndrome rare d'anomalie chromosomique principalement caractérisé par un retard de croissance intra-utérin, des anomalies cardiaques congénitales (incluant une communication atrioventriculaire, la persistance du canal artériel) et une dysmorphie craniofaciale (incluant un hypertélorisme, des fentes palpébrales obliques en bas et en dehors, un large pont nasal). Les patients présentent aussi des anomalies cérébrales (hypoplasie du cervelet, asymétrie ventriculaire), rénales (petits reins dysplasiques), et/ou génitales (testicules non descendues, micropénis, hypoplasie des grandes lèvres). Des anomalies digitales et de la pigmentation cutanée ont aussi été rapportées."},"de":{"name":"Mosaik-Trisomie 15","synonyms":["Mosaik-Trisomie Chromosom 15"],"definition":"Die Mosaik-Trisomie 15 ist eine seltene Chromosomenanomalie, die hauptsächlich durch intrauterine Wachstumsrestriktion, kongenitale kardiale Anomalien (inkl. Ventrikel- und Vorhofseptumdefekte, persistierender Ductus arteriosus) und kraniofaziale Dysmorphien (inkl. Hypertelorismus, schräg abwärts verlaufende Lidspalten, breiter Nasenrücken) gekennzeichnet ist. Die Patienten weisen auch Anomalien des Gehirns (z. B. hypoplastisches Kleinhirn, ventrikuläre Asymmetrie), der Nieren (z. B. kleine dysplastische Nieren) und/oder des Genitals (nicht herabgestiegene Hoden, kleiner Penis, hypoplastische große Schamlippen) auf. Fingeranomalien und Pigmentierungsanomalien der Haut wurden ebenfalls berichtet."},"es":{"name":"Síndrome de trisomía 15 en mosaico","synonyms":["Trisomía del cromosoma 15 en mosaico"],"definition":"La trisomía 15 en mosaico es un síndrome por anomalía cromosómica poco frecuente, que se caracteriza principalmente por una restricción del crecimiento intrauterino, anomalías cardíacas congénitas (que incluyen defectos septales auriculares y ventriculares, conducto arterioso persistente) y dismorfia craneofacial (incl. hipertelorismo, fisuras palpebrales inclinadas hacia abajo, puente nasal ancho). Los afectados presentan también anomalías cerebrales (p. ej., cerebelo hipoplásico, asimetría ventricular), renales (p. ej., riñones displásicos pequeños) y/o genitales (testículos no descendidos, pene pequeño, labios mayores hipoplásicos). También se han notificado anomalías digitales y de la pigmentación cutánea."},"it":{"name":"Sindrome trisomia 15 in mosaico","synonyms":["Trisomia del cromosoma 15 in mosaico"],"definition":"La trisomia 15 in mosaico è un'anomalia cromosomica rara, caratterizzata prevalentemente da ritardo della crescita prenatale, cardiopatie congenite (difetti del setto interventricolare ed interatriale, pervietà del dotto arterioso) e dismorfismi craniofacciali (ipertelorismo, rime palpebrali oblique verso il basso, sella nasale ampia). Inoltre, i pazienti presentano anomalie cerebrali (ipoplasia del cervelletto, asimmetria ventricolare), renali (reni piccoli displastici) e/o genitali (criptorchidismo, micropene, ipoplasia delle grandi labbra). Possono associarsi anomalie delle dita e della pigmentazione cutanea."},"nl":{"name":"Mozaïektrisomie 15-syndroom","synonyms":["Mozaïektrisomie chromosoom 15","Trisomie 15 mozaïcisme"],"definition":"Mozaïektrisomie 15 is een zeldzaam syndroom met een chromosomale anomalie, en wordt voornamelijk gekarakteriseerd door intra-uteriene groeirestrictie, congenitale hartanomalieën (incl. ventrikel- en atriumseptumdefecten, persisterende ductus arteriosus) en craniofaciale dysmorfie (incl. hypertelorisme, neerwaartse ooglidspleten, brede neusbrug). Patiënten vertonen ook anomalieën van de hersenen (e.g. hypoplastisch cerebellum, ventriculaire asymmetrie), de nieren (e.g. kleine dysplastische nieren), en/of de genitaliën (niet-ingedaalde teelballen, kleine penis, hypoplastische buitenste schaamlippen). Afwijkingen van de vingers/tenen en van de huidpigmentatie werden ook reeds gerapporteerd."},"pt":{"name":"Trissomia 15 em mosaico"},"pl":{"name":"Zespół mozaikowej trisomii chromosomu 15","synonyms":["Mosaic trisomy chromosome 15","Trisomy 15 mosaicism"]},"cs":{"name":"Mozaiková forma trizomie 15","synonyms":["Mosaic trisomy chromosome 15","Trisomy 15 mosaicism"]},"uk":{"name":"Мозаїчна трисомія 15","synonyms":["Мозаїчна трисомія хромосоми 15","Трисомія 15 мозаїчність"],"definition":"Mosaic trisomy 15 is a rare chromosomal anomaly syndrome principally characterized by intrauterine growth restriction, congenital cardiac anomalies (incl. ventricular and atrial septal defects, patent ductus arteriosus) and craniofacial dysmorphism (incl. hypertelorism, downslanting palpebral fissures, wide nasal bridge). Patients also present brain (e.g. hypoplastic cerebellum, ventricular asymmetry), renal (e.g. small dysplastic kidneys), and/or genital (undescended testis, small penis, hypoplastic labia majora) anomalies. Digital and skin pigmentation abnormalities have also been reported."},"zh":{"name":"15号染色体嵌合三倍体","synonyms":["嵌合15号染色体三体"]},"tr":{"name":"Mozaik trizomi 15","synonyms":["Trizomi 15 mozaisizmi","Mozaik trizomi kromozomu 15"]}},"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,"icd11_uri":"null"},{"source":"MONDO","code":"0015727","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538037","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931707","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5313","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":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25736076[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001155","label":"Abnormality of the hand","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000707","label":"Abnormality of the nervous system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002916","label":"Abnormality of chromosome segregation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004097","label":"Deviation of finger","frequency":"Frequent (79-30%)","criteria":null}]}}