{"orpha":2997,"name":"Ptosis-vocal cord paralysis syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Tucker syndrome"],"definition":"Ptosis-vocal cord paralysis syndrome is a rare, hereditary disorder with ptosis characterized by the combination of congenital bilateral recurrent laryngeal nerve paralysis and congenital bilateral ptosis. There have been no further descriptions in the literature since 1983.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2997/","orphanet_url":"https://www.orpha.net/en/disease/detail/2997","names":{"fr":{"name":"Syndrome de ptosis-paralysie des cordes vocales","synonyms":["Syndrome de Tucker"],"definition":"Maladie héréditaire rare avec ptosis caractérisée par l'association d'une paralysie récurrentielle bilatérale congénitale du nerf laryngé et d'un ptosis bilatéral congénital. Aucun cas n'a été décrit dans la littérature depuis 1983."},"de":{"name":"Ptosis-Stimmbandlähmung-Syndrom","synonyms":["Tucker-Syndrom"]},"es":{"name":"Síndrome de ptosis-parálisis de las cuerdas vocales","synonyms":["Síndrome de Tucker"],"definition":"Es un trastorno con ptosis, hereditario y poco frecuente, caracterizado por la combinación de parálisis congénita bilateral recurrente del nervio laríngeo y ptosis congénita bilateral. No ha habido más casos descritos en la literatura desde 1983."},"it":{"name":"Sindrome ptosi e paralisi delle corde vocali","synonyms":["Sindrome di Tucker"],"definition":"La sindrome che associa la ptosi e la paralisi delle corde vocali è una malattia ereditaria rara caratterizzata dall'associazione tra la paralisi congenita bilaterale del nervo laringeo ricorrente e la ptosi bilaterale congenita. Non sono stati descritti nuovi casi dopo il 1983."},"nl":{"name":"Ptosis - paralyse van stemband-syndroom","synonyms":["Ptosis - stembandverlamming-syndroom","Syndroom van Tucker"],"definition":"Ptose - stembandparalyse-syndroom is een zeldzame, erfelijke stoornis met ptose, en wordt gekarakteriseerd door de combinatie van congenitale bilaterale verlamming van de nervus laryngeus recurrens (terugkerende strottenhoofdzenuw) en congenitale bilaterale ptose. Sinds 1983 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de ptose-parésia das cordas vocais","synonyms":["Síndrome Tucker"]},"pl":{"name":"Zespół ptozy i porażenia fałdów głosowych","synonyms":["Zespół Tuckera","Zespół Tuckera"],"definition":"*Zespół ptozy i porażenia fałdów głosowych jest rzadkim, dziedzicznym zaburzeniem z opadaniem powiek, który charakteryzuje się wrodzonym obustronnym nawracającym porażeniem nerwu krtaniowego w skojarzeniu z wrodzonym obustronnym opadaniem powiek. Od 1983 roku w literaturze nie ma nowych opisów."},"cs":{"name":"Syndrom zahrnující ptózu a paralýzu hlasivek","synonyms":["Tuckerův syndrom"]},"uk":{"name":"Синдром птозу-паралічу голосових звязок","synonyms":["Синдром Такера"],"definition":"Ptosis-vocal cord paralysis syndrome is a rare, hereditary disorder with ptosis characterized by the combination of congenital bilateral recurrent laryngeal nerve paralysis and congenital bilateral ptosis. There have been no further descriptions in the literature since 1983."},"zh":{"name":"睑下垂-声带麻痹综合征","synonyms":["Tucker综合征"]},"tr":{"name":"Pitoz-vokal kord paraliz sendromu","synonyms":["Tucker sendromu"]}},"xrefs":[{"source":"OMIM","code":"193240","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"J38.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"CA0H.0","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0008665","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536923","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1860403","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"427","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":98578,"name":"Rare disorder with ptosis","classifications":[147,156,189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"6633110[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_6633110[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-09-11","source":null,"terms":[{"hpo":"HP:0002301","label":"Hemiplegia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001611","label":"Hypernasal speech","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001601","label":"Laryngomalacia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003510","label":"Severe short stature","frequency":"Frequent (79-30%)","criteria":null}]}}