{"orpha":597746,"name":"Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare developmental defect during embryogenesis characterized by the presence of major features of both blepharophimosis-intellectual disability syndrome and genitopatellar syndrome. These major features may include blepharophimosis, ptosis, hypomimia, skeletal features like patellar a/hypoplasia and renal and/or genital malformations.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-597746/","orphanet_url":"https://www.orpha.net/en/disease/detail/597746","names":{"fr":{"name":"Syndrome de chevauchement des syndromes blépharophimosis-déficience intellectuelle/génito-patellaire","definition":"Anomalie rare du développement embryonnaire caractérisée par la présence de manifestations majeures du syndrome blépharophimosis-déficience intellectuelle ainsi que du syndrome génito-patellaire. Ces manifestations majeures peuvent comprendre blépharophimosis, ptosis, hypomimie, anomalies squelettiques telles qu'une aplasie/hypoplasie patellaire et malformations rénales et/ou génitales."},"de":{"name":"Blepharophimose-Intelligenzminderung-Syndrom/genitopatellares Überlappungssyndrom","definition":"Eine seltene Entwicklungsstörung während der Embryogenese, die durch das Vorhandensein der Hauptmerkmale sowohl des Blepharophimose-Syndroms mit Intelligenzminderung als auch des Genitopatellarsyndroms gekennzeichnet ist. Zu diesen Hauptmerkmalen können Blepharophimose, Ptosis, Hypomimie, Skelettmerkmale wie Patellahypoplasie und Fehlbildungen der Nieren und/oder Genitalien gehören."},"es":{"name":"Síndrome de blefarofimosis-discapacidad intelectual tipo SBBYS con solapamiento con síndrome genitopatelar","definition":"Es un trastorno poco frecuente del desarrollo durante la embriogénesis caracterizado por la presencia de manifestaciones importantes tanto del síndrome de blefarofimosis-discapacidad intelectual como del síndrome genitopatelar. Estas características principales pueden incluir blefarofimosis, ptosis, hipomimia y afectación esquelética, como la hipoplasia rotuliana, así como malformaciones renales y/o genitales."},"it":{"name":"Sindrome da blefarofimosi e disabilità intellettiva, sindrome SBBYS sovrapposta alla sindrome genitopatellare"},"nl":{"name":"Overlapsyndroom van blefarofimose - intellectuele achterstand-syndroom, SBBYS-type/genitopatellair syndroom","definition":"Een zeldzaam ontwikkelingsdefect tijdens embryogenese, gekenmerkt door de aanwezigheid van hoofdkenmerken van zowel blefarofimose - intellectuele achterstand-syndroom en genitopatellair syndroom. Mogelijke hoofdkenmerken zijn onder meer blefarofimose, ptosis, hypomimie, skeletkenmerken zoals aplasie/hypoplasie van patella, en malformaties van nier en/of genitaliën."},"pt":{"name":"Síndrome de blefarofimose-perturbação do desenvolvimento intelectual/síndrome de sobreposição genitopatelar","definition":"Anomalia rara do desenvolvimento durante a embriogénese, caracterizada pela presença das caraterísticas principais tanto da síndrome de blefarofimose-perturbação do desenvolvimento intelectual como da síndrome genitopatelar. Estas caraterísticas principais podem incluir blefarofimose, ptose, hipomimia, caraterísticas esqueléticas como a/hipoplasia patelar e malformações renais e/ou genitais."},"pl":{"name":"Zespół blefarofimozy i niepełnosprawności intelektualnej, typ SBBYS/zespół płciowo-rzepkowy","definition":"Rzadka wada rozwojowa w okresie embriogenezy, charakteryzująca się występowaniem głównych cech zarówno zespołu BIS (zwężenie szpar powiekowych – niepełnosprawność intelektualna), jak zespołu płciowo-rzepkowego. Główne cechy zespołu to zwężenie szpar powiekowych, opadanie powiek, uboga mimika twarzy, hipoplazja rzepki oraz wady rozwojowe nerek i/lub narządów płciowych."},"cs":{"name":"Syndrom zahrnující blefarofimózu a mentální retardaci/genitopatelární překryvný syndrom"},"uk":{"name":"Синдром блефарофімозу-інтелектуальної недостатності/генітопателлярного Overlap-синдрому","definition":"A rare developmental defect during embryogenesis characterized by the presence of major features of both blepharophimosis-intellectual disability syndrome and genitopatellar syndrome. These major features may include blepharophimosis, ptosis, hypomimia, skeletal features like patellar a/hypoplasia and renal and/or genital malformations."},"zh":{"name":"Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome"},"tr":{"name":"Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome"}},"xrefs":[{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0035707","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681588","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":597749,"name":"KAT6B-related multiple congenital anomalies syndrome","classifications":[147,156,181,185,199]},{"orpha":177107,"name":"Syndromic hypothyroidism","classifications":[156,193]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":122.0,"area":"Worldwide","status":"Validated","source":"32424177[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"32424177[PMID]"}],"phenotypes":null}