{"orpha":231736,"name":"Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["MPPC syndrome"],"definition":"A rare developmental defect of the eye characterized by bilateral microcornea, posterior megalolenticonus, persistent fetal vasculature (extending from the posterior pole of the lens to the optic disc) and posterior chorioretinal coloboma.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-231736/","orphanet_url":"https://www.orpha.net/en/disease/detail/231736","names":{"fr":{"name":"Syndrome de microcornée-mégalolenticône postérieur-persistance du tissu vasculaire foetal-colobome","synonyms":["Syndrome MPPC"],"definition":"Anomalie rare du développement de l'oeil caractérisée par une microcornée bilatérale, un mégalolenticône postérieur, la persistance du tissu vasculaire foetal (allant du pôle postérieur du cristallin au disque optique) et un colobome choriorétinien postérieur."},"de":{"name":"Mikrokornea-Vorderer Lentikonus-persistierender primärer Vitreus-Kolobom-Syndrom","synonyms":["MPCC-Syndrom"]},"es":{"name":"Síndrome de microcórnea-megalolenticonus posterior-persistencia de la vasculatura fetal-coloboma","synonyms":["Síndrome MPCC"],"definition":"El síndrome de microcórnea - megalolenticonus posterior - persistencia de la vasculatura fetal - coloboma es un defecto del desarrollo ocular poco frecuente, caracterizado por microcórnea bilateral, megalolenticonus posterior, vasculatura fetal persistente (que se extiende desde el polo posterior de la lente hasta el disco óptico) y coloboma coriorretiniano posterior."},"it":{"name":"Sindrome da microcornea, megalolenticono posteriore, persistenza del sistema vascolare fetale e coloboma","synonyms":["Sindrome MPCC"],"definition":"La sindrome che associa la microcornea, il megalolenticono posteriore, la persistenza del sistema vascolare fetale e il coloboma è un difetto raro dello sviluppo dell'occhio, caratterizzato da microcornea bilaterale, megalolenticono posteriore, persistenza del sistema vascolare fetale (che si estende dal polo posteriore del cristallino fino al disco ottico) e coloboma corioretinico posteriore."},"nl":{"name":"Microcornea - posterieure megalolenticonus - persisterende foetale vasculatuur - coloboom-syndroom","synonyms":["MPPC-syndroom"],"definition":"Microcornea - posterieure megalolenticonus - persisterende foetale vasculatuur - coloboom-syndroom is een zeldzaam ontwikkelingsdefect van het oog dat gekarakteriseerd wordt door bilaterale microcornea, posterieure megalolenticonus, persisterende foetale vasculatuur (die zich uitstrekt van de achterste pool van de lens tot de oogzenuwkop) en posterieur chorioretinaal coloboom."},"pt":{"name":"Microcórnea - megalolenticonus posterior - vasculatura fetal persistente - coloboma"},"pl":{"name":"Mała rogówka - przedni stożek soczewki olbrzymiej - przetrwałe unaczynienie płodowe - szczelina błony naczyniowej i siatkówki","synonyms":["Zespół MPPC"]},"cs":{"name":"Syndrom zahrnující mikrokorneu, posteriorní megalolentikonus, perzistentní fetální vaskulaturu a kolobom","synonyms":["MPPC syndrom"]},"uk":{"name":"Синдром мікрокорнеа- заднього мегалолентиконусу-персистуючої судинної системи плода-колобоми","synonyms":["Синдром MPPC"],"definition":"A rare developmental defect of the eye characterized by bilateral microcornea, posterior megalolenticonus, persistent fetal vasculature (extending from the posterior pole of the lens to the optic disc) and posterior chorioretinal coloboma."},"zh":{"name":"小角膜-后巨大圆锥晶状体-持续性胎儿血管-眼缺损综合征","synonyms":["MPPC综合征"],"definition":"小角膜-后部巨大圆锥晶状体-持续性胎儿脉管缺损综合征是一种罕见的眼部发育缺陷，其特征是双侧小角膜、后部巨大圆锥晶状体、永存原始玻璃体增生症（从晶状体后极延伸至视盘）和后脉络膜视网膜缺损。"},"tr":{"name":"Mikrokornea-posterior megalolentikonus-persistan fetal vaskülatür-koloboma sendromu","synonyms":["MPPC sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q15.8","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":"0016509","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4751163","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10938","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":519292,"name":"Syndromic ectopia lentis","classifications":[147,189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"20417569[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20417569[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000567","label":"Chorioretinal coloboma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000482","label":"Microcornea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011502","label":"Posterior lenticonus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007968","label":"Remnants of the hyaloid vascular system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000556","label":"Retinal dystrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Occasional (29-5%)","criteria":null}]}}