{"orpha":85319,"name":"X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome is characterised by intellectual deficit, epilepsy, facial dysmorphism and progressive joint contractures. It has been described in two boys. Hypotonia and feeding problems at birth were also reported. The mode of transmission is X-linked.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85319/","orphanet_url":"https://www.orpha.net/en/disease/detail/85319","names":{"fr":{"name":"Syndrome de déficience intellectuelle liée à l'X-épilepsie-contracture progressive des articulations-dysmorphie","definition":"Syndrome de déficience intellectuelle liée à l'X-épilepsie-contracture progressive des articulations-dysmorphie se caractérise par une déficience intellectuelle, des épisodes épileptiques, une dysmorphie faciale et une contracture progressive des articulations. Il a été décrit chez deux garçons dont l'un présentait également une hypotonie et des problèmes d'alimentation à la naissance. Le mode de transmission de ce syndrome est de type lié à l'X."},"de":{"name":"X-chromosomale Intelligenzminderung-Epilepsie-progressive Gelenkkontrakturen-Dysmorphie-Syndrom","definition":"Dieses Syndrom ist gekennzeichnet durch Intelligenzminderung, zerebrale Krampfanfälle, faziale Dysmorphien und fortschreitende Gelenkkontrakturen. Es wurde bei 2 Knaben beschrieben. Schon bei Geburt bestanden Muskelhypotonie und Fütterprobleme. Die Vererbung ist X-chromosomal."},"es":{"name":"Síndrome de discapacidad intelectual-epilepsia-contracturas progresivas de las articulaciones-dismorfia ligado al cromosoma X","definition":"Es un trastorno caracterizado por déficit intelectual, epilepsia, dismorfia facial y contracturas articulares progresivas. Se ha descrito en dos niños. También se informó hipotonía y problemas de alimentación al nacimiento. El modo de transmisión está ligado al cromosoma X."},"it":{"name":"Sindrome disabilità intellettiva legata all'X-epilessia-contratture articolari progressive-facies caratteristica"},"nl":{"name":"X-gebonden intellectuele achterstand - epilepsie - progressieve gewrichtscontracturen - dysmorfie-syndroom","definition":"Een syndroom, gekenmerkt door intellectuele achterstand, epilepsie, faciale dysmorfie, en progressieve gewrichtscontracturen. Het werd beschreven bij twee jongens. Hypotonie en voedingsproblemen bij de geboorte werden ook gerapporteerd. De wijze van transmissie is X-gebonden."},"pt":{"name":"Síndrome de perturbação do desenvolvimento intelectual-epilepsia-contraturas articulares progressivas-dismorfia ligada ao X"},"pl":{"name":"Niepełnosprawność intelektualna sprzężona z chromosomem X- padaczka - postępujące przykurcze stawów - dysmorfizm"},"cs":{"name":"X-vázaný syndrom zahrnující mentální retardaci, epilepsii, progresivní kloubní kontraktury a dysmorfismus"},"uk":{"name":"Синдром Х-зчепленої розумової відсталості-епілепсії-прогресуючих контрактур суглобів-дисморфізму","definition":"X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome is characterised by intellectual deficit, epilepsy, facial dysmorphism and progressive joint contractures. It has been described in two boys. Hypotonia and feeding problems at birth were also reported. The mode of transmission is X-linked."},"zh":{"name":"X连锁智力障碍-癫痫-进行性关节挛缩-畸形综合征"},"tr":{"name":"X'e bağlı zihinsel yetersizlik-epilepsi-ilerleyici eklem kontraktürleri-dismorfizm sendromu"}},"xrefs":[{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD90","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0019418","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304917","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]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"8574418[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8574418[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-12-04","source":"8574418[PMID]","terms":[{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002828","label":"Multiple joint contractures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005876","label":"Progressive flexion contractures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null}]}}