{"orpha":3052,"name":"X-linked intellectual disability-seizures-psoriasis syndrome","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":["Tranebjaerg-Svejgaard syndrome"],"definition":"A rare, X-linked syndromic intellectual disability disorder characterized by severe intellectual disability, psychomotor developmental delay, generalized seizures, and psoriasis. Mild craniofacial dysmorphism, such as hypertelorism, broad nasal bridge, anteverted nares, macrostomia, highly arched palate and large ears, is also associated. There have been no further descriptions in the literature since 1988.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3052/","orphanet_url":"https://www.orpha.net/en/disease/detail/3052","names":{"fr":{"name":"Syndrome de déficience intellectuelle liée à l'X-épilepsie-psoriasis","synonyms":["Syndrome de Tranebjaerg-Svejgaard"],"definition":"Déficience intellectuelle syndromique rare liée à l'X caractérisée par une déficience intellectuelle sévère, un retard de développement psychomoteur, des convulsions généralisées et un psoriasis. Une légère dysmorphie faciale, à type d'hypertélorisme, de pont nasal large, de narines antéversées, de macrostomie, de palais ogival et de grandes oreilles, est également associée. Aucun cas n'a été décrit dans la littérature depuis 1988."},"de":{"name":"X-chromosomale Intelligenzminderung-Krämpfe-Psoriasis-Syndrom","synonyms":["Tranebjaerg-Svejgaard-Syndrom"],"definition":"Eine seltene, X-chromosomale syndromale Störung der intellektuellen Entwicklung, die durch schwere geistige Behinderung, psychomotorische Entwicklungsverzögerung, generalisierte Anfälle und Psoriasis gekennzeichnet ist. Milde kraniofaziale Dysmorphien, wie Hypertelorismus, breiter Nasenrücken, antevertierte Nasenlöcher, Makrostomie, stark gewölbter Gaumen und große Ohren, sind ebenfalls assoziiert. Seit 1988 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de discapacidad intelectual-crisis-psoriasis ligado al cromosoma X","synonyms":["Síndrome de Tranebjaerg-Svejgaard"],"definition":"Es un trastorno sindrómico poco frecuente de discapacidad intelectual ligado al cromosoma X y caracterizado por una grave discapacidad intelectual, retraso del desarrollo psicomotor, crisis epilépticas generalizadas y psoriasis. También se asocia leve dismorfia craneofacial, que incluye hipertelorismo, puente nasal ancho, narinas antevertidas, macrostomía, paladar ojival y pabellones auriculares grandes. No ha habido más casos descritos en la literatura desde 1988."},"it":{"name":"Sindrome da disabilità intellettiva legata all'X-crisi epilettiche-psoriasi","synonyms":["Sindrome di Tranebjaerg-Svejgaard"],"definition":"Si tratta di una malattia genetica rara da disabilità intellettiva legata all'X, caratterizzata da disabilità intellettiva grave, ritardo dello sviluppo psicomotorio, crisi epilettiche generalizzate e psoriasi. I pazienti presentano dismorfismi facciali sfumati, che comprendono l'ipertelorismo, la sella nasale ampia, le narici anteverse, la macrostomia, il palato ogivale e le orecchie grandi. Non sono stati descritti nuovi casi dopo il 1988."},"nl":{"name":"X-gebonden intellectuele achterstand - stuipen - psoriasis-syndroom","synonyms":["Syndroom van Tranebjaerg-Svejgaard"],"definition":"Een zeldzame, X-gebonden, syndromale intellectuele achterstand gekarakteriseerd door ernstige intellectuele achterstand, psychomotorische ontwikkelingsachterstand, gegeneraliseerde insulten, en psoriasis. Milde craniofaciale dysmorfie, zoals hypertelorisme, brede neusbrug, anteversie van de neusgaten, macrostomie, hoog gebogen verhemelte en grote oren, is ook geassocieerd. Sinds 1988 verschenen er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de perturbação do desenvolvimento intelectual-convulsões-psoríase ligada ao X","synonyms":["Síndrome Tranebjaerg-Svejgaard"]},"pl":{"name":"Niepełnosprawność intelektualna sprzężona z chromosomem X - ataki padaczkowe - łuszczyca","synonyms":["Zespół Tranebjaerga i Svejgaarda"]},"cs":{"name":"X-vázaný syndrom zahrnující mentální retardaci, záchvaty a psoriázu","synonyms":["Tranebjaergové-Svejgaardův syndrom","Tranebjaerg-Svejgaardův syndrom"]},"uk":{"name":"Синдром Х-зчепленої розумової відсталості-судом-псоріазу","synonyms":["Синдром Транебєрга-Свейгаарда"],"definition":"A rare, X-linked syndromic intellectual disability disorder characterized by severe intellectual disability, psychomotor developmental delay, generalized seizures, and psoriasis. Mild craniofacial dysmorphism, such as hypertelorism, broad nasal bridge, anteverted nares, macrostomia, highly arched palate and large ears, is also associated. There have been no further descriptions in the literature since 1988."},"zh":{"name":"X连锁智力障碍-癫痫-银屑病综合征","synonyms":["Tranebjaerg-Svejgaard综合征"]},"tr":{"name":"X'e bağlı zihinsel yetersizlik nöbetleri-psoriazis sendromu","synonyms":["Tranebjaerg-Svejgaard sendromu"]}},"xrefs":[{"source":"OMIM","code":"309480","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010652","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536978","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931381","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5238","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":98683,"name":"Syndromic disorder with strabismus","classifications":[189]},{"orpha":522520,"name":"Syndromic genetic disorder with strabismus","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"3177453[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3177453[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-04-03","source":"3177453[PMID]","terms":[{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003765","label":"Psoriasiform dermatitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008064","label":"Ichthyosis","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0003538","label":"Increased serum iduronate sulfatase activity","frequency":"Excluded (0%)","criteria":null}]}}