{"orpha":1450,"name":"Ring chromosome 8 syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Ring 8","Ring chromosome 8","r(8) syndrome"],"definition":"A rare chromosomal anomaly comprising variable parts of chromosome 8. The phenotype of mosaic or non-mosaic supernumerary r(8)/mar(8) ranges from almost normal to variable degrees of minor abnormalities, and growth and mental retardation overlapping with the well-known mosaic trisomy 8 syndrome.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1450/","orphanet_url":"https://www.orpha.net/en/disease/detail/1450","names":{"fr":{"name":"Syndrome du chromosome 8 en anneau","synonyms":["Chromosome 8 en anneau","Syndrome r(8)"],"definition":"Anomalie chromosomique rare comprenant des parties variables du chromosome 8. Le phénotype du surnombre r(8)/mar(8) mosaïque ou non mosaïque varie d'un phénotype presque normal à des degrés divers d'anomalies mineures, le déficit intellectuel et de croissance étant en commun avec la trisomie 8 en mosaïque bien connue."},"de":{"name":"Ringchromosom-8-Syndrom","synonyms":["Ringchromosom 8","überzähliges Marker/Ring-Chromosom 8"],"definition":"Eine seltene Chromosomenanomalie, die variable Teile von Chromosom 8 umfasst. Der Phänotyp von mosaikartigen oder nicht-mosaikartigen überzähligen r(8)/mar(8) reicht von fast normal bis zu variablen Graden geringfügiger Anomalien und Wachstums- und Intelligenzminderung, die sich mit dem bekannten mosaikartigen Trisomie-8-Syndrom überschneiden."},"es":{"name":"Síndrome del cromosoma 8 en anillo","synonyms":["Anillo 8","Cromosoma 8 en anillo","Síndrome r(8)"],"definition":"Es una anomalía cromosómica poco frecuente que comprende partes variables del cromosoma 8. El fenotipo del r(8)/mar(8) supernumerario en mosaico o no mosaico oscila desde un fenotipo casi normal a grados variables de anomalías menores y retraso mental y del crecimiento que solapa con el bien conocido síndrome de trisomía 8 en mosaico."},"it":{"name":"Anello/marcatore derivato dal cromosoma 8 sovrannumerario","synonyms":["Anello/marcatore 8 sovrannumerario","Cromosoma 8 ad anello"],"definition":"Il cromosoma ad anello/marcatore in sovrannumero derivato dal cromosoma 8 è un'anomalia cromosomica rara che interessa diverse pozioni del cromosoma 8. Il fenotipo di questa aneuploidia, che può essere in mosaico, va dalla normalità alla presenza di anomalie lievi, ritardo mentale e della crescita, di grado variabile, che si sovrappongono con la trisomia 8 in mosaico (si veda questo termine)."},"nl":{"name":"Ringchromosoom 8-syndroom","synonyms":["Ring 8","Ringchromosoom 8","r(8)-syndroom"],"definition":"Een zeldzame chromosomale anomalie van variabele delen van chromosoom 8. Het fenotype van mozaïsch of niet-mozaïsch surnumerair r(8)/mar(8) gaat van nagenoeg normaal tot variabele gradaties van minieme afwijkingen, en groeiachterstand en intellectuele achterstand, overlappend met het goed gekende mozaïektrisomie 8-syndroom."},"pt":{"name":"Síndrome do cromossoma 8 em anel","synonyms":["Anel do cromossoma 8"]},"pl":{"name":"Dodatkowy chromosom markerowy/pierścieniowy pochodzący z chromosomu 8","synonyms":["Chromosom pierścieniowy 8","Supernumerary ring/marker 8"],"definition":"Rzadka aberracja chromosomowa, obejmująca różne części 8 chromosomu. Fenotyp związany z obecnością mozaikowego lub niemozaikowego nadliczbowego r(8)/mar(8) jest prawie prawidłowy lub wiąże się z niewielkimi nieprawidłowościami różnego stopnia, zaś wzrost i niepełnosprawność intelektualna są podobne do obserwowanych w dobrze poznanym zespole trisomii mozaikowej chromosomu 8."},"cs":{"name":"Nadpočetný ring/marker chromozom 8","synonyms":["Ring chromozom 8","Nadpočetný ring chromozom derivovaný z chromozomu 8"]},"uk":{"name":"Синдром кільцевої хромосоми 8","synonyms":["синдром r(8)","Кільце 8","Кільцева хромосома 8"],"definition":"A rare chromosomal anomaly comprising variable parts of chromosome 8. The phenotype of mosaic or non-mosaic supernumerary r(8)/mar(8) ranges from almost normal to variable degrees of minor abnormalities, and growth and mental retardation overlapping with the well-known mosaic trisomy 8 syndrome."},"zh":{"name":"环状8号染色体综合征","synonyms":["r(8)综合征"]},"tr":{"name":"Halka kromozom 8 sendromu","synonyms":["Halka 8","r(8) sendromu","Halka kromozomu 8"]}},"xrefs":[{"source":"ICD-10","code":"Q93.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD7Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"341245119"},{"source":"MONDO","code":"0015443","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"15443","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537824","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4274902","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1347","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":363203,"name":"Ring chromosome syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"15337475[PMID]_ISBN 10:3110116073[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_ISBN 10:3110116073[OTHER]_15337475[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000174","label":"Abnormal palate morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000069","label":"Abnormality of the ureter","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004097","label":"Deviation of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002162","label":"Low posterior hairline","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100830","label":"Round ear","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000340","label":"Sloping forehead","frequency":"Very frequent (99-80%)","criteria":null}]}}