{"orpha":280384,"name":"Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["IDMDC"],"definition":"Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome is a rare, genetic, syndromic intellectual disabilty disorder characterized by severe intellectual disability, progressive, postnatal, multiple joint contractures and severe motor dysfunction. Patients present arrest and regression of motor function and speech acquisition, as well as contractures which begin in lower limbs and slowly progress in an ascending manner to include spine and neck, resulting in individuals presenting a specific fixed position.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-280384/","orphanet_url":"https://www.orpha.net/en/disease/detail/280384","names":{"fr":{"name":"Syndrome de déficience intellectuelle récessive-dysfonctionnement moteur-contractures articulaires multiples","synonyms":["IDMDC"],"definition":"Déficience intellectuelle syndromique rare d'origine génétique caractérisée par une déficience intellectuelle sévère, des contractures articulaires multiples progressives, survenant après la naissance, et un dysfonctionnement moteur sévère. On observe un arrêt et une régression de la fonction motrice et de l'acquisition de la parole, ainsi que l'apparition de contractures, d'abord au niveau des membres inférieurs, descendant lentement vers la colonne vertébrale et le cou, figeant les patients dans une position fixe caractéristique."},"de":{"name":"Intelligenzminderung - motorische Dysfunktion - multiple Gelenkkontrakturen, rezessiv","synonyms":["IDMDC"]},"es":{"name":"Síndrome de discapacidad intelectual recesiva-disfunción motora-contracturas articulares múltiples","synonyms":["IDMDC"],"definition":"Es un trastorno genético poco frecuente, caracterizado por discapacidad intelectual sindrómica grave progresiva postnatal, contracturas articulares múltiples y disfunción motora grave. Los afectados presentan detención y regresión de la función motora y adquisición del habla, así como contracturas que comienzan en los miembros inferiores y progresan lentamente de forma ascendente hasta incluir la columna vertebral y el cuello, lo que provoca que los individuos presenten una posición fija específica."},"it":{"name":"Sindrome da disabilità intellettiva recessiva, disfunzione motoria e contratture articolari multiple","synonyms":["IDMDC"],"definition":"La sindrome che associa disabilità intellettiva recessiva, disfunzione motoria e contratture articolari multiple è una malattia genetica rara da disabilità intellettiva sindromica, caratterizzata da disabilità intellettiva grave, contratture articolari multiple postnatali progressive e grave disfunzione motoria. I pazienti presentano arresto e regressione della funzione motoria e dell'acquisizione del linguaggio, e contratture che interessano dapprima gli arti inferiori, per poi estendersi lentamente in direzione ascendente interessando la colonna vertebrale e il collo, costringendo i pazienti ad assumere una posizione fissa caratteristica."},"nl":{"name":"Recessieve intellectuele achterstand - motorische disfunctie - meervoudige gewrichtscontracturen-syndroom","synonyms":["IDMDC"],"definition":"Recessieve intellectuele achterstand - motorische disfunctie - meervoudige gewrichtscontracturen-syndroom is een zeldzame, genetische, syndromale intellectuele stoornis die gekarakteriseerd wordt door ernstige intellectuele achterstand, progressieve, postnatale, meervoudige gewrichtscontracturen en ernstige motorische disfunctie. Patiënten vertonen stilstand en regressie van de motorische functie en spraakverwerving, alsook contracturen die aanvangen in de onderste ledematen en traag evolueren naar boven om de wervelkolom en nek te treffen, wat leidt tot individuen die een specifieke verstarde positie aannemen."},"pt":{"name":"Síndrome de perturbação do desenvolvimento intelectual recessiva-disfunção motora-contraturas articulares múltiplas","synonyms":["IDMDC"]},"pl":{"name":"Recesywny zespół z niepełnosprawnością intelektualną, dysfunkcją ruchową i mnogimi przykurczami stawowymi","synonyms":["IDMDC"],"definition":"*Recesywny zespół z niepełnosprawnością intelektualną, dysfunkcją ruchową i mnogimi przykurczami stawowymi jest rzadkim, genetycznie uwarunkowanym zespołem niepełnosprawności intelektualnej, który charakteryzuje się ciężką niepełnosprawnością intelektualną, postępującymi, mnogimi przykurczami stawów, pojawiającymi się w okresie postnatalnym oraz ciężką dysfunkcją ruchową. Dochodzi do zatrzymania i regresji funkcji ruchowych oraz rozwoju mowy, rozwoju przykurczów, początkowo w kończynach dolnych, a następnie obejmujących kręgosłup i szyję, w wyniku czego utrwala się w specyficzny sposób zgięta pozycja ciała."},"cs":{"name":"Syndrom zahrnující recesivní mentální retardaci, motorickou dysfunkci a mnohočetné kloubní kontraktury","synonyms":["IDMDC"]},"uk":{"name":"Рецесивний синдром розумової відсталості- моторної дисфункції-множинних контрактур суглобів","synonyms":["IDMDC"],"definition":"Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome is a rare, genetic, syndromic intellectual disabilty disorder characterized by severe intellectual disability, progressive, postnatal, multiple joint contractures and severe motor dysfunction. Patients present arrest and regression of motor function and speech acquisition, as well as contractures which begin in lower limbs and slowly progress in an ascending manner to include spine and neck, resulting in individuals presenting a specific fixed position."},"zh":{"name":"隐性智力障碍-运动功能障碍-多关节挛缩综合征","synonyms":["IDMDC"],"definition":"隐性智力残疾-运动功能障碍-多关节挛缩综合征是一种罕见的遗传性综合征性智力残疾，其特征为严重智力残疾、进行性、产后多关节挛缩和严重运动功能障碍为特征。患者表现为运动功能和言语习得停止和消退，及下肢开始出现的挛缩，并缓慢地向上发展，包括脊柱和颈部，导致个体处于特定的固定位置。"},"tr":{"name":"Resesif zihinsel yetersizlik-motor disfonksiyonu-çoklu eklem kontraktür sendromu","synonyms":["IDMDC"]}},"xrefs":[{"source":"ICD-10","code":"Q68.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017232","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749580","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"ERLIN2","name":"ER lipid raft associated 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21330303[PMID]","hgnc":"1356","ensembl":"ENSG00000147475","omim":"611605","loci":["8p11.23"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":12.0,"area":"Worldwide","status":"Validated","source":"21330303[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":"2019-10-04","source":"21330303[PMID]","terms":[{"hpo":"HP:0001344","label":"Absent speech","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003121","label":"Limb joint contracture","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006466","label":"Ankle flexion contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002987","label":"Elbow flexion contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002373","label":"Febrile seizure (within the age range of 3 months to 6 years)","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006380","label":"Knee flexion contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000158","label":"Macroglossia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100712","label":"Abnormal lumbar spine morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011448","label":"Ankle clonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002378","label":"Hand tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007350","label":"Hyperreflexia in upper limbs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000574","label":"Thick eyebrow","frequency":"Occasional (29-5%)","criteria":null}]}}