{"orpha":1799,"name":"Familial developmental dysphasia","type":"Clinical syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Billard-Toutain-Maheut syndrome","FOXP2-associated dysphasia"],"definition":"Familial developmental dysphasia is a severe form of developmental verbal apraxia characterized by a deficit in spontaneous speech, writing, grammatical judgment and repetition, defective articulation, moderate to severe degree of dyspraxia, a reduced use of consonant clusters, and comprehension delay. Hearing and intelligence are normal.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1799/","orphanet_url":"https://www.orpha.net/en/disease/detail/1799","names":{"fr":{"name":"Dysphasie congénitale familiale","synonyms":["Dysphasie associée à FOXP2","Syndrome de Billard-Toutain-Maheut"],"definition":"La dysphasie congénitale familiale est une forme sévère d'apraxie du développement verbal caractérisée par une déficience du langage spontané, de l'écriture, du jugement grammatical et de la répétition, un trouble de l'articulation, une dyspraxie modérée à sévère, une diminution de l'utilisation des groupes de consonnes et un retard de compréhension. Il n'y a pas de déficit intellectuel et l'audition est normale."},"de":{"name":"Dysphasie, familiäre kongenitale","synonyms":["Billard-Toutain-Maheut-Syndrom","Sprachentwicklung, familiäre verzögerte"]},"es":{"name":"Disfasia congénita familiar","synonyms":["Síndrome de Billard-Toutain-Maheut"],"definition":"La disfasia congénita familiar, o disfasia familiar del desarrollo, es una forma grave de apraxia verbal del desarrollo caracterizada por una deficiencia del habla espontánea, de la escritura, del juicio gramatical y la repetición, una articulación deficiente, dispraxia de grado moderado a grave, un uso reducido de grupos de consonantes, y retraso de la comprensión. La audición y la inteligencia son normales."},"it":{"name":"Disfasia congenita familiare","synonyms":["Disfasia associata a FOXP2","Sindrome di Billard-Toutain-Maheut"],"definition":"La disfasia familiare dello sviluppo è una forma grave di aprassia verbale dello sviluppo, caratterizzata da deficit del linguaggio spontaneo, della scrittura, del giudizio grammaticale e della ripetizione, con difetti di articolazione, disprassia moderata-grave, uso limitato delle consonanti e ritardo della comprensione. L'udito e l'intelligenza sono normali."},"nl":{"name":"Familiale ontwikkelingsdysfasie","synonyms":["FOXP2-geassocieerde dysfasie","Syndroom van Billard-Toutain-Maheut"],"definition":"Familiale ontwikkelingsdysfasie is een ernstige vorm van ontwikkelingsgerelateerde verbale dyspraxie die gekarakteriseerd wordt door een deficiëntie van spontane spraak, schrijven, van grammaticale beoordeling en herhaling, een gebrekkige articulatie, matige tot ernstige gradaties van dyspraxie, een verminderd gebruik van groepen van medeklinkers, en een traag begrip. Het gehoor en de intelligentie zijn normaal."},"pt":{"name":"Disfasia do desenvolvimento familiar","synonyms":["Síndrome Billard-Toutain-Maheut"]},"pl":{"name":"Rodzinna dysfazja rozwojowa","synonyms":["Dysfazja związana z FOXP2","Zespół Billarda, Toutaina i Maheuta"]},"cs":{"name":"Familiární vývojová dysfázie","synonyms":["FOXP2 asociovaná dysfázie","Billardův-Toutainův-Maheutův syndrom","Billard-Toutain-Maheutův syndrom"]},"uk":{"name":"Сімейна дисфазія розвитку","synonyms":["Синдром Білларда-Тутена-Магеута","FOXP2-асоційована дисфазія"],"definition":"Familial developmental dysphasia is a severe form of developmental verbal apraxia characterized by a deficit in spontaneous speech, writing, grammatical judgment and repetition, defective articulation, moderate to severe degree of dyspraxia, a reduced use of consonant clusters, and comprehension delay. Hearing and intelligence are normal."},"zh":{"name":"家族性发育性语言障碍","synonyms":["Billard-Toutain-Maheut综合征"]},"tr":{"name":"Ailesel gelişimsel disfazi","synonyms":["FOXP2-ilişkili disfazi","Billard-Toutain-Maheut sendromu"]}},"xrefs":[{"source":"OMIM","code":"600117","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"F80.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010821","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563997","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1838630","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1823","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":211053,"name":"Specific language disorder","classifications":[181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"8031532[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8031532[PMID]"}],"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:0002474","label":"Expressive language delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002546","label":"Incomprehensible speech","frequency":"Very frequent (99-80%)","criteria":null}]}}