{"orpha":3173,"name":"Infantile spasms-broad thumbs syndrome","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":["Tsao-Ellingson syndrome"],"definition":"Infantile spasms-broad thumbs syndrome is a rare neurologic disorder characterized by profound developmental delay, facial dysmorphism (i.e. microcephaly, large anterior fontanel, hypertelorism, downslanting palpebral fissures, beaked nose, micrognathia), broad thumbs and flexion and/or extension spasms. Bilateral cataracts, hypertrophic cardiomyopathy and hydrocele have also been reported. EEG shows hypsarrhythmic features and MRI may reveal partial agenesis of the corpus callosum, mild brain atrophy and/or ventriculomegaly. There have been no further descriptions in the literature since 1990.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3173/","orphanet_url":"https://www.orpha.net/en/disease/detail/3173","names":{"fr":{"name":"Syndrome de spasmes infantiles-pouces larges","synonyms":["Syndrome de Tsao-Ellingson"],"definition":"Un trouble neurologique rare caractérisé par un retard de développement profond, une dysmorphie faciale (microcéphalie, large fontanelle antérieure, hypertélorisme, fentes palpébrales obliques en bas et en dehors, nez en forme de bec, micrognathie), des pouces larges et des spasmes en flexion et/ou en extension. Des cataractes bilatérales, une cardiomyopathie hypertrophique et une hydrocèle ont aussi été rapportées. L'électroencéphalogramme (EEG) révèle des signes hypsarythmiques et l'imagerie par résonance magnétique (IRM) peut révéler une agénésie partielle du corps calleux, une légère atrophie cérébrale et/ou une ventriculomégalie. Il n'y a pas eu de description ultérieure dans la littérature depuis 1990."},"de":{"name":"Infantile Krampfanfälle - breite Daumen","synonyms":["Tsao-Ellington-Syndrom"]},"es":{"name":"Síndrome de espasmos-pulgar ancho del lactante","synonyms":["Síndrome de Tsao-Ellington"],"definition":"Es un trastorno neurológico poco frecuente caracterizado por un retraso profundo del desarrollo, dismorfia facial (incluyendo microcefalia, fontanela anterior grande, hipertelorismo, fisuras palpebrales inclinadas hacia abajo, nariz picuda, micrognatia), pulgares anchos y espasmos en flexión y/o extensión. También se han descrito cataratas bilaterales, miocardiopatía hipertrófica e hidrocele. El EEG muestra características hipsarrítmicas y la RM puede revelar agenesia parcial del cuerpo calloso, atrofia cerebral leve y ventriculomegalia. No se han descrito más casos en la literatura desde 1990."},"it":{"name":"Sindrome spasmi infantili - pollici larghi","synonyms":["Sindrome di Tsao-Ellington"],"definition":"La sindrome che associa spasmi infantili e pollici larghi è una malattia neurologica rara, caratterizzata da grave ritardo dello sviluppo, dismorfismi facciali (microcefalia, fontanella anteriore ampia, ipertelorismo, rime palpebrali oblique verso il basso, naso a becco, micrognazia), pollici larghi e spasmi in flessione e/o estensione. Possono associarsi la cataratta bilaterale, la cardiomiopatia ipertrofica e l'idrocele. L'EEG evidenzia segni di ipsaritmia e la RMN mostra agenesia parziale del corpo calloso, lieve atrofia cerebrale e/o ventricolomegalia. Non sono stati descritti nuovi casi dopo il 1990."},"nl":{"name":"Infantiele spasmen - brede duimen-syndroom","synonyms":["Syndroom van Tsao-Ellingson"],"definition":"Infantiele spasmen - brede duimen-syndroom is een zeldzame neurologische stoornis die gekarakteriseerd wordt door grote ontwikkelingsachterstand, faciale dysmorfie (i.e. microcefalie, grote voorste fontanel, hypertelorisme, schuin aflopende ooglidspleten, bekvormige neus, micrognathie), brede duimen en spasmen in buig- en/of strekspieren. Bilaterale cataracten, hypertrofische cardiomyopathie en hydrocèle werden ook reeds gerapporteerd. EEG toont hypsaritmische kenmerken en MRI toont mogelijk partiële agenesie van het corpus callosum, milde atrofie van de hersenen en/of ventriculomegalie. Sinds 1990 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de espasmos infantis-polegares largos","synonyms":["Síndrome Tsao-Ellingson"]},"pl":{"name":"Napady zgięciowe - szerokie kciuki","synonyms":["Zespół Tsao i Ellingsona"],"definition":"*Napady zgięciowe – szerokie kciuki to zespół rzadkich zaburzeń neurologicznych, który charakteryzuje się głębokim opóźnieniem rozwoju, dysmorfią twarzy (małogłowie, duże ciemię przednie, hiperteloryzm, skośnie w dół ustawione dołowi szpary powiekowe, zakrzywiony nos, mikrognacja), obecnością szerokich kciuków oraz napadami zgięciowymi i/lub wyprostnymi. Opisywano występowanie zaćmy obustronnej, kardiomiopatii przerostowej i wodniaka. W EEG widoczna jest hipsarytmia, a w badaniu MRI częściowa agenezja ciała modzelowatego, łagodny zanik mózgu i/lub poszerzenie komór mózgowych. Od 1990 roku nie ma nowych opisów w literaturze."},"cs":{"name":"Syndrom zahrnující infantilní spazmy a široké palce","synonyms":["Tsaoův-Ellingsonův syndrom","Tsao-Ellingsonův syndrom"]},"uk":{"name":"Синдром інфантильних спазмів - широких великих пальців","synonyms":["Синдром Цао-Еллінгсона"],"definition":"Infantile spasms-broad thumbs syndrome is a rare neurologic disorder characterized by profound developmental delay, facial dysmorphism (i.e. microcephaly, large anterior fontanel, hypertelorism, downslanting palpebral fissures, beaked nose, micrognathia), broad thumbs and flexion and/or extension spasms. Bilateral cataracts, hypertrophic cardiomyopathy and hydrocele have also been reported. EEG shows hypsarrhythmic features and MRI may reveal partial agenesis of the corpus callosum, mild brain atrophy and/or ventriculomegaly. There have been no further descriptions in the literature since 1990."},"zh":{"name":"婴儿痉挛-宽拇指综合征","synonyms":["Tsao-Ellingson综合征"]},"tr":{"name":"İnfantil spazmlar-geniş başparmak sendromu","synonyms":["Tsao-Ellingson sendromu"]}},"xrefs":[{"source":"ICD-10","code":"G40.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017852","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749287","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3002","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":166472,"name":"Monogenic disease with epilepsy","classifications":[156,181]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"2335044[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_2335044[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000235","label":"Abnormality of the fontanelles or cranial sutures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007370","label":"Aplasia/Hypoplasia of the corpus callosum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011304","label":"Broad thumb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000444","label":"Convex nasal ridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001639","label":"Hypertrophic cardiomyopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000543","label":"Optic disc pallor","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100672","label":"Vaginal hernia","frequency":"Very frequent (99-80%)","criteria":null}]}}