{"orpha":1973,"name":"Faciocardiorenal syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Eastman-Bixler syndrome"],"definition":"A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1973/","orphanet_url":"https://www.orpha.net/en/disease/detail/1973","names":{"fr":{"name":"Syndrome facio-cardio-rénal","synonyms":["Syndrome d'Eastman-Bixler"],"definition":"Le syndrome faciocardiorenal est un syndrome très rare associant un déficit intellectuel, des reins en fer à cheval et une malformation cardiaque congénitale."},"de":{"name":"Fazio-kardio-renales Syndrom","synonyms":["Eastman-Bixler-Syndrom"],"definition":"Das Fazio-kardio-renale Syndrom ist sehr selten und gekennzeichnet durch intellektuelles Defizit, Hufeisenniere und angeborene Herzfehler."},"es":{"name":"Síndrome faciocardiorenal","synonyms":["Síndrome de Eastman-Bixler"],"definition":"Es un síndrome muy poco frecuente caracterizado por déficit intelectual, riñón en herradura y defectos congénitos del corazón."},"it":{"name":"Sindrome facio-cardio-renale","synonyms":["Sindrome di Eastman-Bixler"]},"nl":{"name":"Faciocardiorenaal syndroom","synonyms":["Syndroom van Eastman-Bixler"],"definition":"Een zeer zeldzaam syndroom, gekenmerkt door intellectuele beperking, hoefijzernier, en congenitale hartdefecten."},"pt":{"name":"Síndrome facio-cardio-renal","synonyms":["Síndrome Eastman-Bixler"],"definition":"A síndrome faciocardiorenal é uma síndrome muito rara caracterizada por défice cognitivo, rim em ferradura, e anomalias cardíacas congénitas."},"pl":{"name":"Zespół twarzowo-sercowo-nerkowy","synonyms":["Zespół Eastmana i Bixlera"]},"cs":{"name":"Faciokardiorenální syndrom","synonyms":["Eastmanův-Bixlerův syndrom","Eastman-Bixlerův syndrom"]},"uk":{"name":"Фаціокардіоренальний синдром","synonyms":["Синдром Істмана-Бікслера"],"definition":"A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects."},"zh":{"name":"面心肾综合征","synonyms":["Eastman-Bixler综合征"]},"tr":{"name":"Fasiyokardiyorenal sendrom","synonyms":["Eastman-Bixler sendromu"]}},"xrefs":[{"source":"OMIM","code":"227280","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009205","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536388","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0795936","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2230","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":93547,"name":"Syndromic renal or urinary tract malformation","classifications":[147,156,188,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"880742[PMID]_1887846[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_880742[PMID]_1887846[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000085","label":"Horseshoe kidney","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000668","label":"Hypodontia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001357","label":"Plagiocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000319","label":"Smooth philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000430","label":"Underdeveloped nasal alae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001706","label":"Endocardial fibroelastosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001704","label":"Tricuspid valve prolapse","frequency":"Occasional (29-5%)","criteria":null}]}}