{"orpha":1951,"name":"Epilepsy-telangiectasia syndrome","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare, genetic, epilepsy syndrome characterized by epilepsy, palpebral conjunctival telangiectasias, borderline to moderate intellectual disability, diminished serum IgA levels, shortened fifth fingers and dysmorphic facial features (including frontal hirsutism, synophrys, anteverted nostrils, prominent ears, long philtrum, irregular teeth implantation, micrognathia). There have been no further descriptions in the literature since 1978.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1951/","orphanet_url":"https://www.orpha.net/en/disease/detail/1951","names":{"fr":{"name":"Syndrome d'épilepsie-télangiectasie","definition":"Syndrome épileptique génétique rare caractérisé par une épilepsie, des télangiectasies de la conjonctive palpébrale, une déficience intellectuelle limite à modérée, une diminution du taux d'IgA sérique, un raccourcissement des 5<sup>es</sup> doigts et une dysmorphie faciale (hirsutisme au niveau du front, synophridie, narines antéversées, oreilles proéminentes, philtrum long, dentition irrégulière, micrognathie). Aucun nouveau cas n'a été décrit dans la littérature depuis 1978."},"de":{"name":"Epilepsie-Teleangiektasie-Syndrom","definition":"Ein seltenes, genetisch bedingtes Epilepsiesyndrom, das durch Epilepsie, Teleangiektasien der Augenlid-Konjunktiva, grenzwertige bis mäßige Intelligenzminderung, verringerte IgA-Serumspiegel, verkürzte fünfte Finger und Gesichtsdysmorphien (einschließlich frontalem Hirsutismus, Synophrys, antevertierten Nasenlöchern, abstehenden Ohren, langem Philtrum, unregelmäßiger Zahnimplantation und Mikrognathie) gekennzeichnet ist. Seit 1978 sind keine neuen Fälle in der Literatur beschrieben worden."},"es":{"name":"Síndrome de epilepsia-telangiectasia","definition":"Es un síndrome epiléptico poco frecuente de origen genético caracterizado por epilepsia, telangiectasias conjuntivales palpebrales, discapacidad intelectual de muy leve a moderada, niveles reducidos de IgA sérica, acortamiento del quinto dedo de la mano y rasgos faciales dismórficos (incluyendo hirsutismo frontal, sinofridia, narinas antevertidas, orejas prominentes, filtrum largo, implantes dentales irregulares, micrognatia). No se han publicado más descripciones en la literatura desde 1978."},"it":{"name":"Sindrome da epilessia-telangectasia","definition":"Si tratta di un'epilessia genetica rara, caratterizzata da epilessia, telangectasie della congiuntiva palpebrale, disabilità intellettiva borderline o moderata, livelli bassi delle IgA nel siero, accorciamento del quinto dito e dismorfismi facciali (irsutismo della fronte, sinofria, narici anteverse, orecchie prominenti, filtro lungo, anomalie dell'impianto dei denti, micrognazia). Non sono stati descritti nuovi casi dopo il 1978."},"nl":{"name":"Epilepsie - teleangiëctasie-syndroom","definition":"Een zeldzaam genetisch epilepsiesyndroom, gekenmerkt door epilepsie, palpebrale conjunctivale telangiëctasieën, geringe tot matige intellectuele achterstand, verlaagde IgA-gehaltes in serum, kortere vijfde vingers, en dysmorfe gelaatskenmerken (inclusief frontaal hirsutisme, synophrys, anteversie van de neusgaten, prominente oren, lang filtrum, onregelmatige inplanting van tanden, micrognathie). Sinds 1978 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de epilepsia-telangiectasia","definition":"Síndrome epiléptica genética rara, caracterizada por epilepsia, telangiectasias conjuntivais palpebrais, perturbação do desenvolvimento intelectual limítrofe a moderada, níveis séricos de IgA diminuídos, quinto dedo encurtado e características faciais dismórficas (incluindo hirsutismo frontal, sinofris, narinas antevertidas, orelhas proeminentes, filtro longo, implantação irregular dos dentes, micrognatia). Não existem descrições adicionais na literatura desde 1978."},"pl":{"name":"Zespół padaczki i telangiektazji","definition":"Rzadki, genetycznie uwarunkowany zespół padaczkowy, który charakteryzuje się padaczką, teleangiektazjami spojówki powiekowej, niepełnosprawnością intelektualną od granicznej do umiarkowanej, obniżonym poziomem IgA w surowicy, skróconymi piątymi palcami i dysmorfią twarzy (hirsutyzm czołowy, zrośnięcie brwi, odwrócenie nozdrzy, duże uszy, długa rynienka podnosowa, wada zgryzu, mikrognacja). Od 1978 r. nie ma dalszych opisów w literaturze."},"cs":{"name":"Epilepsie - teleangiektázie"},"uk":{"name":"Синдром епілепсії-телеангіектазії","definition":"A rare, genetic, epilepsy syndrome characterized by epilepsy, palpebral conjunctival telangiectasias, borderline to moderate intellectual disability, diminished serum IgA levels, shortened fifth fingers and dysmorphic facial features (including frontal hirsutism, synophrys, anteverted nostrils, prominent ears, long philtrum, irregular teeth implantation, micrognathia). No new cases have been described in the literature since 1978."},"zh":{"name":"癫痫-毛细血管扩张综合征"},"tr":{"name":"Epilepsi-telenjiektazi sendromu"}},"xrefs":[{"source":"OMIM","code":"226850","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G40.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009188","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535497","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518554","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2168","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":166472,"name":"Monogenic disease with epilepsy","classifications":[156,181]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"627106[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_627106[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000524","label":"Conjunctival telangiectasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002720","label":"Decreased circulating IgA level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004313","label":"Decreased circulating antibody level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009237","label":"Short 5th finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Frequent (79-30%)","criteria":null}]}}