{"orpha":2307,"name":"IVIC syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Oculo-oto-radial syndrome","Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia"],"definition":"IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2307/","orphanet_url":"https://www.orpha.net/en/disease/detail/2307","names":{"fr":{"name":"Syndrome IVIC","synonyms":["Syndrome oculo-oto-radial"],"definition":"Le syndrome IVIC est un syndrome génétique malformatif très rare caractérisé par des anomalies des membres supérieurs (anomalies du rayon radial, fusion de l'os carpien), des perturbations motrices extraoculaires et une surdité mixte bilatérale congénitale, non progressive."},"de":{"name":"IVIC-Syndrom","synonyms":["Okulo-oto-radiales Syndrom"]},"es":{"name":"Síndrome IVIC","synonyms":["Síndrome óculo-oto-radial"],"definition":"El síndrome IVIC es un síndrome malformativo genético muy raro caracterizado por anomalías en las extremidades superiores (defectos de los ejes radiales, fusión de huesos carpianos), alteraciones motoras extraoculares y pérdida auditiva mixta bilateral no-progresiva congénita."},"it":{"name":"Sindrome IVIC","synonyms":["Sindrome oculo-oto-radiale"],"definition":"La sindrome IVIC è una sindrome da malformazione molto rara, caratterizzata da anomalie degli arti superiori (difetti del radio, fusione delle ossa carpali), disturbi motori extraoculari e sordità mista non progressiva bilaterale congenita."},"nl":{"name":"IVIC-syndroom","synonyms":["Oculo-oto-radiaal syndroom"],"definition":"IVIC-syndroom is een zeer zeldzaam genetisch malformatiesyndroom gekenmerkt door afwijkingen van de bovenste ledematen (radiale straaldefecten, fusie van de carpale botjes), extraoculaire motorische stoornissen en een aangeboren, bilateraal, niet-progressief, gemengd gehoorverlies."},"pt":{"name":"Síndrome IVIC","synonyms":["Síndrome óculo-oto-radial"]},"pl":{"name":"Zespół IVIC","synonyms":["Zespół oczno-uszno-promieniowy"]},"cs":{"name":"IVIC syndrom","synonyms":["Okulootoradiální syndrom","Porucha radiální osy, zhoršení sluchu, externí oftalmoplegie a trombocytopenie"]},"uk":{"name":"IVIC-синдром","synonyms":["Окуло-ото-радіальний синдром","Дефекти променевої системи, порушення слуху, зовнішня офтальмоплегія та тромбоцитопенія"],"definition":"IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss."},"zh":{"name":"IVIC 综合征","synonyms":["桡侧序列缺损，听力障碍，眼外肌麻痹和血小板减少症"]},"tr":{"name":"IVIC sendromu","synonyms":["Okulo-oto-radyal sendrom","Radyal ışın kusurları, işitme bozukluğu, eksternal oftalmopleji ve trombositopeni"]}},"xrefs":[{"source":"OMIM","code":"147750","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q71.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0007836","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535544","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1327918","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"269","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":404574,"name":"Genetic syndrome with limb reduction defects","classifications":[156]},{"orpha":294955,"name":"Syndrome with limb reduction defects","classifications":[147,199]},{"orpha":98683,"name":"Syndromic disorder with strabismus","classifications":[189]},{"orpha":522520,"name":"Syndromic genetic disorder with strabismus","classifications":[156]}],"children":[],"genes":[{"symbol":"SALL4","name":"spalt like transcription factor 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17256792[PMID]","hgnc":"15924","ensembl":"ENSG00000101115","omim":"607343","loci":["20q13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"17256792[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":"2017-11-20","source":null,"terms":[{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002984","label":"Hypoplasia of the radius","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003510","label":"Severe short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007477","label":"Abnormal dermatoglyphics","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002974","label":"Radioulnar synostosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009778","label":"Short thumb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005048","label":"Synostosis of carpal bones","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001199","label":"Triphalangeal thumb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006660","label":"Aplastic clavicles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001974","label":"Increased total leukocyte count","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001177","label":"Preaxial hand polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000143","label":"Rectovaginal fistula","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Occasional (29-5%)","criteria":null}]}}