{"orpha":2999,"name":"Ptosis-strabismus-ectopic pupils syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["McPherson-Hall syndrome"],"definition":"A rare genetic eye disease characterized by the combination of ptosis, strabismus and ectopic pupils. There have been no further descriptions in the literature since 1976.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2999/","orphanet_url":"https://www.orpha.net/en/disease/detail/2999","names":{"fr":{"name":"Syndrome de ptosis-strabisme-pupilles ectopiques","synonyms":["Syndrome de McPherson-Hall","Syndrome de ptosis-strabisme-correctopie"],"definition":"Syndrome de ptosis-strabisme-pupilles ectopiques est caractérisé par l'association d'un ptosis, d'un strabisme et d'une ectopie des pupilles. Il a été décrit chez une famille (une mère et trois de ses enfants). Le mode de transmission est autosomique dominant."},"de":{"name":"Ptosis-Strabismus-ektopische Pupillen-Syndrom","synonyms":["Mcpherson-Hall-Syndrom"],"definition":"Eine seltene genetische Augenerkrankung, die durch eine Kombination aus Ptosis, Strabismus und ektopischen Pupillen gekennzeichnet ist. Seit 1976 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de ptosis-estrabismo-pupilas ectópicas","synonyms":["Síndrome de Mcpherson-Hall"],"definition":"Es una enfermedad ocular genética poco frecuente caracterizada por la combinación de ptosis, estrabismo y pupilas ectópicas."},"it":{"name":"Ptosi - strabismo - pupille ectopiche","synonyms":["Sindrome di McPherson-Hall"]},"nl":{"name":"Ptosis - strabisme - ectopische pupillen-syndroom","synonyms":["Syndroom van McPherson-Hall"],"definition":"Een zeldzame genetische aandoening van oog, gekenmerkt door de combinatie van ptosis, strabisme en ectopische pupillen. Sinds 1976 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de ptose-estrabismo-pupilas ectópicas","synonyms":["Síndrome McPherson-Hall"]},"pl":{"name":"Ptoza - zez -źrenice ektopowe","synonyms":["Zespół McPhersona i Halla"]},"cs":{"name":"Syndrom zahrnující ptózu, strabismus a ektopické zornice","synonyms":["McPhersonův-Hallův syndrom","McPherson-Hallův syndrom"]},"uk":{"name":"Синдром птозу-косоокості-ектопічних зіниць","synonyms":["Синдром Макферсона-Холла"],"definition":"A rare disorder characterized by the association of ptosis, strabismus and ectopic pupils. It has been described in one family (in a mother and three of her children). Transmission is autosomal dominant."},"zh":{"name":"睑下垂-斜视-瞳孔异位综合征","synonyms":["McPherson-Hall综合征"]},"tr":{"name":"Pitoz-şaşılık-ektopik pupil sendromu","synonyms":["McPherson-Hall sendromu"]}},"xrefs":[{"source":"OMIM","code":"178330","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q10.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA10.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0008341","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4511968","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4577","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":519286,"name":"Rare disorder of the pupil","classifications":[189]},{"orpha":98578,"name":"Rare disorder with ptosis","classifications":[147,156,189]},{"orpha":522568,"name":"Rare genetic disorder of the pupil","classifications":[156]},{"orpha":98683,"name":"Syndromic disorder with strabismus","classifications":[189]},{"orpha":522520,"name":"Syndromic genetic disorder with strabismus","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"949861[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_949861[PMID]"}],"phenotypes":null}