{"orpha":91412,"name":"Marcus-Gunn syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Jaw-winking syndrome","Mandibulo-palpebral synkinesis-ptosis syndrome","Marcus-Gunn phenomenon"],"definition":"A rare ophthalmic disorder characterized by congenital ptosis associated with pterygoid-levator synkinesis (also called jaw-winking).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-91412/","orphanet_url":"https://www.orpha.net/en/disease/detail/91412","names":{"fr":{"name":"Syndrome de Marcus-Gunn","synonyms":["Phénomène de Marcus-Gunn","Syndrome de jaw-winking","Syndrome de syncinésie mandibulo-palpébrale-ptosis"],"definition":"Maladie ophtalmique rare caractérisée par un ptosis congénital associé à une syncinésie du muscle ptérygoïdien et du muscle releveur de la paupière supérieure (également appelée clignement de la mâchoire)."},"de":{"name":"Marcus-Gunn-Syndrom","synonyms":["Marcus-Gunn-Phänomen"],"definition":"Eine seltene Augenerkrankung, die durch eine angeborene Ptosis in Verbindung mit einer Pterygoid-Levator-Synkinesis (auch Kiefer-Zwinkern genannt) gekennzeichnet ist."},"es":{"name":"Síndrome de Marcus-Gunn","synonyms":["Fenómeno de Marcus-Gunn"],"definition":"Es un trastorno oftálmico poco frecuente caracterizado por ptosis congénita asociada a sincinesia del elevador del pterigoideo (también llamada 'guiño mandibular')."},"it":{"name":"Sindrome di Marcus-Gunn","synonyms":["Fenomeno di Marcus-Gunn"]},"nl":{"name":"Syndroom van Marcus-Gunn","synonyms":["'Jaw winking'-syndroom","Fenomeen van Marcus-Gunn","Mandibulopalpebrale synkinese - ptosis-syndroom"],"definition":"Een zeldzame oftalmologische aandoening, gekenmerkt door congenitale ptosis geassocieerd met synkinese van musculus pterygoideus (kauwspieren) en musculus levator palpebrae (ooglidopheffer) (ook gekend als 'jaw-winking' of het knipperen van het oog bij het bewegen van de kaak)."},"pt":{"name":"Síndrome de Marcus-Gunn","definition":"Doença oftálmológica rara caracterizado por ptose congénita associada à sincinesia do músculo pterigóideo-elevador (também designada de piscar de mandíbula)."},"pl":{"name":"Zespół Marcusa Gunna","synonyms":["Fenomen Marcusa Gunna","Współruch żuchwowo-powiekowy - ptoza","Zespół Jaw-winking syndrome"]},"cs":{"name":"Syndrom Marcuse Gunna","synonyms":["Syndrom mandibulární synkineze","Syndrom zahrnující mandibulopalpebrální synkinezi a ptózu","Marcus Gunnův fenomén","Gunnův syndrom mandibulární synkineze"]},"uk":{"name":"Синдром Маркуса-Гунна","synonyms":["Синдром підморгування щелепи","Синдром мандибуло-пальпебрального синкинезу-птозу","Явище Маркуса-Гунна"],"definition":"A rare ophthalmic disorder characterized by congenital ptosis associated with pterygoid-levator synkinesis (also called jaw-winking)."},"zh":{"name":"Marcus-Gunn综合征","synonyms":["下颌-眼睑联动-睑下垂综合征"]},"tr":{"name":"Marcus-Gunn sendromu","synonyms":["Çene-göz kırpma sendromu","Marcus-Gunn fenomeni","Mandibulo-palpebral sinkinezi-pitozis sendromu"]}},"xrefs":[{"source":"OMIM","code":"154600","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q07.8","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"9A03.00","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"590216180"},{"source":"MONDO","code":"0007946","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535908","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0266521","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6972","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10064583","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":[{"orpha":98951,"name":"Inverse Marcus-Gunn phenomenon","type":"Clinical subtype"},{"orpha":101104,"name":"Marin-Amat syndrome","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","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":"2021-10-14","source":"27608283[PMID]_33598261 [PMID]_32644484[PMID]","terms":[{"hpo":"HP:0025186","label":"Marcus Gunn jaw winking synkinesis","frequency":"Obligate (100%)","criteria":"Pathognomonic sign"},{"hpo":"HP:0010824","label":"Abnormal fifth cranial nerve morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000646","label":"Amblyopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025584","label":"Hypotropia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007687","label":"Unilateral ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012803","label":"Anisometropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0020041","label":"Double elevator palsy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031747","label":"Superior rectus muscle underaction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031703","label":"Abnormal ear morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000078","label":"Abnormality of the genital system","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004408","label":"Abnormality of the sense of smell","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000453","label":"Choanal atresia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0410030","label":"Cleft lip","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000589","label":"Coloboma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0025514","label":"Morning glory anomaly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000787","label":"Nephrolithiasis","frequency":"Very rare (<4-1%)","criteria":null}]}}