{"orpha":96167,"name":"Recombinant 8 syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Duplication 8q/deletion 8p","Rec(8) syndrome","Rec8 syndrome","Recombinant chromosome 8 syndrome","San Luis Valley syndrome"],"definition":"Recombinant 8 (rec(8)) syndrome, also known as San Luis Valley syndrome, is a complex chromosomal disorder that is due to a parental pericentric inversion of chromosome 8 and is characterized by major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-96167/","orphanet_url":"https://www.orpha.net/en/disease/detail/96167","names":{"fr":{"name":"Syndrome du chromosome 8 recombinant","synonyms":["Duplication 8q/délétion 8p","Syndrome Rec8","Syndrome de San Luis Valley"],"definition":"Le syndrome du chromosome 8 recombinant (syndrome Rec8), aussi connu sous le nom de syndrome de San Luis Valley est une maladie chromosomique complexe causée par une inversion péricentrique d'origine parentale du chromosome 8 et caractérisée par des anomalies cardiaques congénitales majeures, des malformations urogénitales, un déficit intellectuel modéré à sévère et une dysmorphie craniofaciale légère."},"de":{"name":"Rekombinantes 8-Syndrom","synonyms":["Duplikation 8q/Deletion 8p","Rec(8)-Syndrom","Rec8-Syndrom","Rekombinantes Chromosom 8-Syndrom","San Luis Valley-Syndrom"],"definition":"Das Rekombinante 8 (rec(8))-Syndrom, auch San-Luis-Valley-Syndrom genannt, ist eine komplexe Chromosomenstörung, die durch eine elterliche perizentrische Inversion des Chromosoms 8 verursacht wird und die durch größere angeborene Herzfehler, urogenitale Fehlbildungen, mäßige bis schwere geistige Behinderung und milde kraniofaziale Dysmorphien gekennzeichnet ist."},"es":{"name":"Síndrome del cromosoma 8 recombinante","synonyms":["Dupliación 8q/deleción 8p","Síndrome Rec(8)","Síndrome Rec8","Síndrome del Valle de San Luis"],"definition":"El síndrome del cromosoma 8 recombinante (rec(8)), también conocido como síndrome de San Luis Valley, es un trastorno cromosómico complejo debido a la inversión pericéntrica parental del cromosoma 8. Se caracteriza por anomalías cardíacas congénitas importantes, malformaciones urogenitales, déficit intelectual de moderado a grave y dismorfismo craneofacial leve."},"it":{"name":"Sindrome 8 ricombinante","synonyms":["Duplicazione 8q/delezione 8p","Sindrome Rec(8)","Sindrome Rec8","Sindrome del cromosoma 8 ricombinante","Sindrome di San Luis Valley"],"definition":"La sindrome 8 ricombinante (rec(8)), nota anche come sindrome della San Luis Valley, è un'anomalia cromosomica complessa, dovuta ad un'inversione pericentrica parentale del cromosoma 8; è caratterizzata da gravi cardiopatie, malformazioni urogenitali, deficit cognitivo moderato-grave e lievi dismorfismi facciali."},"nl":{"name":"Recombinant 8-syndroom","synonyms":["Duplicatie 8q/deletie 8p","Rec(8)-syndroom","Rec8-syndroom","Recombinant chromosoom 8-syndroom","San-Luis-Valleysyndroom"],"definition":"Recombinant 8 syndroom (rec(8)), ook bekend als San-Luis-Valleysyndroom, is een complexe chromosoomafwijking die te wijten is aan een parentale pericentrische inversie van chromosoom 8 en wordt gekenmerkt door belangrijke aangeboren hartafwijkingen, urogenitale malformaties, matige tot ernstige intellectuele achterstand en milde craniofaciale dysmorfie."},"pt":{"name":"Síndrome de San Luis Valley"},"pl":{"name":"Zespół rekombinacji chromosomu 8","synonyms":["Duplikacja 8q/delecja 8p","Zespół Rec(8)","Zespół Rec8","Zespół rekombinowanego chromosomu 8","Zespół San Luis Valley"]},"cs":{"name":"Rekombinantní chromozom 8","synonyms":["Duplikace 8q/delece 8p","Rec(8) syndrom","Rec8 syndrom","Syndrom rekombinantního chromozomu 8","Syndrom San Luis Valley"]},"uk":{"name":"Синдром рекомбінантної хромосоми 8","synonyms":["Дуплікація 8q/делеція 8p","Синдром Rec(8)","Синдром Rec8","Синдром рекомбінантної хромосоми 8","Синдром долини Сан-Луїс"],"definition":"Recombinant 8 (rec(8)) syndrome, also known as San Luis Valley syndrome, is a complex chromosomal disorder that is due to a parental pericentric inversion of chromosome 8 and is characterized by major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism."},"zh":{"name":"8号染色体重组综合征","synonyms":["8号染色体重组综合征"],"definition":"重组8号染色体（rec(8)）综合征又称San Luis Valley综合征，是一种复杂的染色体病，是由于父母的8号染色体臂间倒位引起的，其特征是严重的先天性心脏异常、泌尿生殖道畸形、中重度智力缺陷和轻度颅面部畸形。"},"tr":{"name":"Rekombinant 8 sendromu","synonyms":["Rec8 sendromu","Rec (8) sendromu","San Luis Valley sendromu","Duplikasyon 8q / delesyon 8p","Rekombinant kromozom 8 sendromu"]}},"xrefs":[{"source":"OMIM","code":"179613","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q99.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD41.P","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1847411826"},{"source":"MONDO","code":"0008365","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535296","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0795822","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9698","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":263708,"name":"Complex chromosomal rearrangement syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001595","label":"Abnormality of the hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001869","label":"Deep plantar creases","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100729","label":"Large face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002162","label":"Low posterior hairline","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001582","label":"Redundant skin","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:0000766","label":"Abnormal sternum morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000077","label":"Abnormality of the kidney","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000464","label":"Abnormality of the neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000356","label":"Abnormality of the outer ear","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007598","label":"Bilateral single transverse palmar creases","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000389","label":"Chronic otitis media","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000212","label":"Gingival overgrowth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000050","label":"Hypoplastic male external genitalia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006443","label":"Patellar aplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004415","label":"Pulmonary artery stenosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000046","label":"Small scrotum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001636","label":"Tetralogy of Fallot","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012471","label":"Thick vermilion border","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004378","label":"Abnormality of the anus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000504","label":"Abnormality of vision","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000204","label":"Cleft upper lip","frequency":"Occasional (29-5%)","criteria":null}]}}