{"orpha":2466,"name":"MASA syndrome","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome"],"definition":"A X-linked, clinical subtype of L1 syndrome, characterized by mild to moderate intellectual disability, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2466/","orphanet_url":"https://www.orpha.net/en/disease/detail/2466","names":{"fr":{"name":"Syndrome MASA","synonyms":["Syndrome de déficience intellectuelle-aphasie-brachybasie-pouces en adduction"],"definition":"Sous-type clinique, lié à l'X, du syndrome L1 caractérisé par une déficience intellectuelle légère à modérée, un retard de développement du langage, une hypotonie évoluant vers une spasticité ou une paraplégie spastique, des pouces en adduction et une dilatation légère à modérée des ventricules cérébraux."},"de":{"name":"MASA-Syndrom","synonyms":["Intelligenzminderung-Aphasie-schlurfender Gang-adduzierte Daumen-Syndrom"],"definition":"Ein angeborener X-chromosomaler klinischer Subtyp des L1-Syndroms, der durch eine leichte bis mittelschwere Intelligenzminderung, eine verzögerte Sprachentwicklung, eine Hypotonie, die in eine Spastik oder spastische Paraplegie übergeht, adduzierte Daumen und eine leichte bis mittelschwere Dehnung der Hirnventrikel gekennzeichnet ist."},"es":{"name":"Síndrome MASA","synonyms":["Síndrome de discapacidad intelectual-afasia-marcha arrastrando los pies-pulgares en aducción"],"definition":"Es un subtipo clínico ligado al cromosoma X del síndrome L1, caracterizado por discapacidad intelectual de leve a moderada, retraso en el desarrollo del habla, hipotonía que progresa a espasticidad o paraplejía espástica, pulgares en aducción y distensión de los ventrículos cerebrales de leve a moderada."},"it":{"name":"Sindrome MASA","synonyms":["Sindrome deficit cognitivo-afasia-andatura strascicata-pollici addotti"],"definition":"Con il termine sindrome MASA (ritardo mentale, afasia, paraplegia spastica, pollici addotti) si definisce un fenotipo che oggi si considera parte dello spettro clinico della sindrome L1 legata all'X (sindrome L1; si veda questo termine). La sindrome MASA è caratterizzata da pollici addotti, ipotonia, che progredisce verso la spasticità o la paraplegia spastica, ritardo dello sviluppo del linguaggio, deficit cognitivo lieve-moderato e distensione lieve-moderata dei ventricoli cerebrali."},"nl":{"name":"MASA-syndroom","synonyms":["Intellectuele achterstand - afasie - schuifelende gang - geadduceerde duimen-syndroom"],"definition":"Een X-gebonden, klinisch subtype van L1-syndroom, gekarakteriseerd door milde tot matige intellectuele achterstand, vertraagde spraakontwikkeling, hypotonie met progressie tot spasticiteit of spastische paraplegie, geadduceerde duimen, en milde tot matige distensie van hersenventrikels."},"pt":{"name":"Síndrome MASA","synonyms":["Síndrome de perturbação do desenvolvimento intelectual-afasia-marcha instável-polegares aductos"]},"pl":{"name":"Zespół MASA","synonyms":["Zespół niepełnosprawność intelektualna - afazja - powłóczysty chód - przywiedzione kciuki"]},"cs":{"name":"MASA syndrom","synonyms":["Mentální retardace, afázie, šouravá chůze a addukované palce"]},"uk":{"name":"Синдром МАSА","synonyms":["Синдром Іітелектуальної недостатності-афазії-шаркаючої ходи-доданих великих пальців"],"definition":"A X-linked, clinical subtype of L1 syndrome, characterized by mild to moderate intellectual disability, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles."},"zh":{"name":"MASA综合征","synonyms":["智力障碍-失语-曳行步态-拇指内收综合征"]},"tr":{"name":"MASA sendromu","synonyms":["Zihinsel yetersizlik-afazi-yürüyüş karıştırma-addukte başparmak sendromu"]}},"xrefs":[{"source":"OMIM","code":"303350","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8B44.02","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1973644723"},{"source":"MONDO","code":"0010559","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536029","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0795953","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6986","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":85330,"name":"X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":275543,"name":"L1 syndrome","classifications":[147,156,181]},{"orpha":98888,"name":"X-linked complex spastic paraplegia","classifications":[156,181]}],"children":[],"genes":[{"symbol":"L1CAM","name":"L1 cell adhesion molecule","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301657[PMID]","hgnc":"6470","ensembl":"ENSG00000198910","omim":"308840","loci":["Xq28"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002381","label":"Aphasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001188","label":"Hand clenching","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004374","label":"Hemiplegia/hemiparesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001258","label":"Spastic paraplegia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null}]}}