{"orpha":3465,"name":"Worster-Drought syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital suprabulbar paresis"],"definition":"Worster-Drought syndrome (WDS) is a form of cerebral palsy characterized by congenital pseudobulbar (suprabulbar) paresis manifesting as selective weakness of the lips, tongue and soft palate, dysphagia, dysphonia, drooling and jaw jerking.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3465/","orphanet_url":"https://www.orpha.net/en/disease/detail/3465","names":{"fr":{"name":"Syndrome de Worster-Drought","synonyms":["Parésie suprabulbaire congénitale"],"definition":"Le syndrome de Worster-Drought est une forme de paralysie cérébrale caractérisée par une parésie pseudobulbaire (suprabulbaire) congénitale se manifestant par une faiblesse sélective des lèvres, de la langue et du voile du palais, avec une dysphagie, une dysphonie, une hypersialorrhée, et une hyperréflexie massétérine."},"de":{"name":"Worster-Drought-Syndrom","synonyms":["Suprabulbäre Parese, kongenitale"],"definition":"Das Worster-Drought-Syndrom (WDS) ist eine Form von Zerebralparese und gekennzeichnet durch eine kongenitale pseudobulbäre (suprabulbäre) Parese mit selektiver Schwäche der Lippen, der Zunge und des weichen Gaumens, sowie durch Dysphagie, Dysphonie, Speichelfluss und ruckartige Kieferbewegungen."},"es":{"name":"Síndrome de Worster-Drought","synonyms":["Paresia suprabulbar congénita"],"definition":"El síndrome de Worster-Drought (SWD) es una forma de parálisis cerebral caracterizada por una paresia pseudobulbar (suprabulbar) congénita que se manifiesta como una debilidad selectiva de labios, lengua y paladar blando, disfagia, disfonía, babeo y espasmos de mandíbula."},"it":{"name":"Sindrome di Worster-Drought","synonyms":["Paresi soprabulbare congenita"]},"nl":{"name":"Syndroom van Worster-Drought","synonyms":["Congenitale suprabulbaire parese"],"definition":"Een vorm van cerebrale parese, gekenmerkt door congenitale pseudobulbaire (suprabulbaire) parese die zich manifesteert als selectieve zwakte van lippen, tong en zacht gehemelte, dysfagie, dysfonie, kwijlen, en spastische kaakbewegingen."},"pt":{"name":"Síndrome Worster-Drought","synonyms":["Parésia suprabulbar congénita"],"definition":"O síndrome de Worster-Drought (WDS) é uma forma de paralisia cerebral congénita caracterizada por paralisia pseudobulbar (suprabulbar) manifestando-se como fraqueza seletiva dos lábios, língua e palato mole, disfagia, disfonia, sialorréia e movimento rapidos da mandíbula."},"pl":{"name":"Zespół Worstera i Droughta","synonyms":["Wrodzony paraliż podopuszkowy"]},"cs":{"name":"Worster-Droughtův syndrom","synonyms":["Vrozená suprabulbární obrna"]},"uk":{"name":"Синдром Уорстера-Дроута","synonyms":["Вроджений надбульбарний парез"],"definition":"Worster-Drought syndrome (WDS) is a form of cerebral palsy characterized by congenital pseudobulbar (suprabulbar) paresis manifesting as selective weakness of the lips, tongue and soft palate, dysphagia, dysphonia, drooling and jaw jerking."},"zh":{"name":"Worster-Drought综合征","synonyms":["先天性上延髓麻痹"]},"tr":{"name":"Worster-Drought sendromu","synonyms":["Doğumsal suprabulbar parezi"]}},"xrefs":[{"source":"OMIM","code":"185480","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G80.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8D23","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1834138618"},{"source":"MONDO","code":"0008503","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536747","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796204","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5598","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98006,"name":"Rare neurologic disease","classifications":[181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.7,"area":"Europe","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-10-15","source":"30090841[PMID]","terms":[{"hpo":"HP:0001291","label":"Abnormal cranial nerve morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002307","label":"Drooling","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001618","label":"Dysphonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040262","label":"Glue ear","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0033683","label":"Jaw hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000183","label":"Tongue muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002445","label":"Tetraplegia","frequency":"Occasional (29-5%)","criteria":null}]}}