{"orpha":2375,"name":"Laryngeal abductor paralysis-intellectual disability syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Plott syndrome"],"definition":"A rare X-linked syndromic intellectual disability characterized by congenital and permanent vocal cord paralysis causing severe congenital laryngeal stridor, associated with intellectual disability in male patients. Other presenting symptoms may include weak cry, cough, cyanosis, neonatal asphyxia, feeding difficulty, aspiration, and bronchiectasis. Microcephaly, tone abnormalities, visual and hearing impairment may also be associated features.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2375/","orphanet_url":"https://www.orpha.net/en/disease/detail/2375","names":{"fr":{"name":"Syndrome de paralysie du larynx-déficience intellectuelle","synonyms":["Syndrome de Plott"],"definition":"Déficience intellectuelle syndromique rare, liée à l'X, caractérisée par une paralysie congénitale permanente des cordes vocales à l'origine d'une laryngomalacie, associée à une déficience intellectuelle chez les patients de sexe masculin. Parmi les autres symptômes figurent des pleurs de faible intensité, une toux, une cyanose, une asphyxie néonatale, des difficultés à s'alimenter, des aspirations et une bronchectasie. Une microcéphalie, des anomalies du tonus musculaire et des troubles auditifs et visuels peuvent aussi être associés."},"de":{"name":"Laryngeale Abduktorenlähmung-Intelligenzminderung-Syndrom","synonyms":["Plott-Syndrom"],"definition":"Eine seltene X-chromosomale syndromale Form der Intelligenzminderung, die durch eine angeborene und dauerhafte Stimmbandlähmung gekennzeichnet ist, die einen schweren kongenitalen Kehlkopfstridor verursacht und bei männlichen Patienten mit einer Intelligenzminderung einhergeht. Weitere Symptome können schwaches Schreien, Husten, Zyanose, neonatale Asphyxie, Schwierigkeiten beim Füttern, Aspiration und Bronchiektasie sein. Mikrozephalie, Tonusanomalien, Seh- und Hörstörungen können ebenfalls assoziierte Merkmale sein."},"es":{"name":"Síndrome de parálisis del abductor laríngeo-discapacidad intelectual","synonyms":["Síndrome de Plott"],"definition":"Es una discapacidad intelectual sindrómica poco frecuente ligada al cromosoma X caracterizada por parálisis congénita y permanente de las cuerdas vocales, que provoca un grave estridor laríngeo congénito, asociado a discapacidad intelectual en varones. Otros síntomas de presentación son llanto débil, tos, cianosis, asfixia neonatal, dificultad para alimentarse, aspiración y bronquiectasias. La microcefalia, las anomalías del tono, la afectación visual y auditiva también pueden ser otros hallazgos acompañantes."},"it":{"name":"Sindrome paralisi dell'adduttore laringeo-disabilità intellettiva","synonyms":["Sindrome di Plott"],"definition":"Si tratta di una disabilità intellettiva sindromica rara legata all'X, caratterizzata dalla paralisi congenita e permanente delle corde vocali, che causa un grave stridore laringeo congenito, associata a disabilità intellettiva nei pazienti maschi. Altri sintomi d'esordio sono il pianto debole, la tosse, la cianosi, l'asfissia neonatale, le difficoltà di alimentazione, l'aspirazione e le bronchiectasie. I pazienti possono presentare anche microcefalia, anomalie del tono e anomalie della vista e dell'udito."},"nl":{"name":"Paralyse van laryngeale abductor - intellectuele achterstand-syndroom","synonyms":["Syndroom van Plott"],"definition":"Een zeldzame X-gebonden syndromale intellectuele achterstand, gekarakteriseerd door congenitale en permanente stembandverlamming die ernstige congenitale stridor van larynx veroorzaakt, geassocieerd met intellectuele achterstand bij mannelijke patiënten. Mogelijke andere presenterende symptomen zijn onder meer een zwakke kreet, hoest, cyanose, neonatale asfyxie, voedingsproblemen, aspiratie, en bronchiëctasie. Microcefalie, toonafwijkingen, visuele stoornissen en slechthorendheid kunnen ook geassocieerde kenmerken zijn."},"pt":{"name":"Síndrome de paralisia do abdutor laríngeo-perturbação do desenvolvimento intelectual","synonyms":["Síndrome Plott"]},"pl":{"name":"Porażenie mięśnia odwodziciela krtani - niepełnosprawność intelektualna","synonyms":["Zespół plotta"]},"cs":{"name":"Paréza hlasivek spojená s mentální retardací","synonyms":["Plottův syndrom"]},"uk":{"name":"Синдром абдукторного паралічу гортані та інтелектуальної недостатності","synonyms":["Синдром Плотта"],"definition":"A rare X-linked syndromic intellectual disability characterized by congenital and permanent vocal cord paralysis causing severe congenital laryngeal stridor, associated with intellectual disability in male patients. Other presenting symptoms may include weak cry, cough, cyanosis, neonatal asphyxia, feeding difficulty, aspiration, and bronchiectasis. Microcephaly, tone abnormalities, visual and hearing impairment may also be associated features."},"zh":{"name":"喉展肌麻痹-智力障碍综合征","synonyms":["Plott综合征"]},"tr":{"name":"Laringeal abdüktör paraliz-zihinsel yetersizlik sendromu","synonyms":["Plott sendromu"]}},"xrefs":[{"source":"OMIM","code":"308850","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"J38.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010639","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4319572","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":[],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":20.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"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":"2019-04-03","source":"2277390[PMID]_4751313[PMID]_14172969[PMID]","terms":[{"hpo":"HP:0002110","label":"Bronchiectasis","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0004886","label":"Congenital laryngeal stridor","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001605","label":"Vocal cord paralysis","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012768","label":"Neonatal asphyxia","frequency":"Frequent (79-30%)","criteria":null}]}}