{"orpha":1752,"name":"Trisomy 8q syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Duplication 8q"],"definition":"A partial autosomal trisomy characterized by developmental delay, intellectual disability, prenatal and postnatal growth retardation, congenital heart, genitourinary and skeletal anomalies, and dysmorphic facial features, including high and broad forehead, hypertelorism, upslanting palpebral fissures, broad nose, dysplastic and low set ears, micrognathia. Phenotypic features vary in relation to the duplication size.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1752/","orphanet_url":"https://www.orpha.net/en/disease/detail/1752","names":{"fr":{"name":"Syndrome de trisomie 8q","synonyms":["Duplication 8q"],"definition":"Trisomie partielle des autosomes caractérisée par un retard psychomoteur, une déficience intellectuelle, un retard de croissance prénatal et postnatal, des anomalies congénitales cardiaques, génito-urinaires et squelettiques, ainsi que par des traits dysmorphiques : un front large et haut, un hypertélorisme, l'inclinaison vers le haut des fentes palpébrales, un nez large, des oreilles basses et dysplasiques, ainsi qu'une micrognathie. Les caractéristiques phénotypiques varient en fonction de la taille de la duplication."},"de":{"name":"Trisomie 8q","synonyms":["Duplikation 8q"],"definition":"Eine partielle autosomale Trisomie, die durch Entwicklungsverzögerung, Intelligenzminderung, pränatale und postnatale Wachstumsretardierung, angeborene Herz-, Urogenital- und Skelettanomalien sowie Gesichtsdysmorphien wie hohe und breite Stirn, Hypertelorismus, aufsteigende Lidachsen, breite Nase, dysplastische und tief angesetzte Ohren und Mikrognathie gekennzeichnet ist. Die phänotypischen Merkmale variieren in Abhängigkeit von der Größe der Duplikation."},"es":{"name":"Síndrome de trisomía 8q","synonyms":["Duplicación 8q"],"definition":"Es una trisomía autosómica parcial caracterizada por retraso del desarrollo, discapacidad intelectual, retraso del crecimiento pre- y postnatal, anomalías congénitas cardíacas, genitourinarias y esqueléticas, y rasgos faciales dismórficos, incluyendo frente ancha y prominente, hipertelorismo, fisuras palpebrales inclinadas hacia arriba, nariz ancha, orejas displásicas y de implantación baja y micrognatia. Las alteraciones fenotípicas varían en relación con el tamaño de la duplicación."},"it":{"name":"Sindrome trisomia 8q","synonyms":["Duplicazione 8q"],"definition":"È una trisomia parziale autosomica, caratterizzata da ritardo dello sviluppo, disabilità intellettiva, ritardo della crescita pre- e postnatale, cardiopatie congenite, anomalie genitourinarie e scheletriche congenite e dismorfismi facciali (fronte alta e ampia, ipertelorismo, rime palpebrali oblique verso l'alto, naso ampio, orecchie displastiche a basso impianto e micrognazia). Il fenotipo varia a seconda dell'ampiezza della duplicazione."},"nl":{"name":"Trisomie 8q-syndroom","synonyms":["Duplicatie 8q"],"definition":"Een partiële autosomale trisomie die gekarakteriseerd wordt door ontwikkelingsachterstand, intellectuele beperking, pre- en postnatale groeiretardatie, congenitale hart, genito-urinaire en skeletanomalieën, en dysmorfe gelaatskenmerken, waaronder hoog en breed voorhoofd, hypertelorisme, opwaarts hellende ooglidspleten, brede neus, dysplastische en laagstaande oren, en micrognathie. Fenotypische kenmerken variëren afhankelijk van de omvang van de duplicatie."},"pt":{"name":"Trissomia 8q","synonyms":["Duplicação 8q","Trissomia 8q"]},"pl":{"name":"Zespół trisomii 8q","synonyms":["Duplikacja 8q"]},"cs":{"name":"Trizomie 8q","synonyms":["Duplikace 8q"]},"uk":{"name":"Трисомія 8q","synonyms":["Дуплікація 8q"],"definition":"A partial autosomal trisomy characterized by developmental delay, intellectual disability, prenatal and postnatal growth retardation, congenital heart, genitourinary and skeletal anomalies, and dysmorphic facial features, including high and broad forehead, hypertelorism, upslanting palpebral fissures, broad nose, dysplastic and low set ears, micrognathia. Phenotypic features vary in relation to the duplication size."},"zh":{"name":"8号染色体长臂三体","synonyms":["8号染色体长臂重复"]},"tr":{"name":"Trizomi 8q","synonyms":["Duplikasyon 8q"]}},"xrefs":[{"source":"ICD-10","code":"Q92.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD41.70","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"573390171"},{"source":"MONDO","code":"0015772","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538020","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0795829","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5362","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262896,"name":"Partial duplication of the long arm of chromosome 8 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":30.0,"area":"Worldwide","status":"Validated","source":"15581839[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","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:0002916","label":"Abnormality of chromosome segregation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010751","label":"Chin dimple","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100818","label":"Long thorax","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000190","label":"Abnormal oral frenulum morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010297","label":"Bifid tongue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100627","label":"Displacement of the urethral meatus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100335","label":"Non-midline cleft of the upper lip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012062","label":"Bone cyst","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006191","label":"Deep palmar crease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002475","label":"Myelomeningocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000202","label":"Orofacial cleft","frequency":"Occasional (29-5%)","criteria":null}]}}