{"orpha":85275,"name":"Microphthalmia-ankyloblepharon-intellectual disability syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["MCOPS4","Syndromic microphthalmia type 4"],"definition":"Microphthalmia-ankyloblepharon-intellectual disability syndrome is characterized by microphthalmia, ankyloblepharon and intellectual deficit. It has been described in seven male patients from two generations of a Northern Ireland family. The causative gene is localized to the Xq27-q28 region. The syndrome is transmitted as an X-linked recessive trait.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85275/","orphanet_url":"https://www.orpha.net/en/disease/detail/85275","names":{"fr":{"name":"Syndrome de microphtalmie-ankyloblépharon-déficience intellectuelle","synonyms":["MCOPS4","Microphtalmie syndromique type 4"],"definition":"Le syndrome de microphtalmie-ankyloblépharon-déficience intellectuelle est caractérisé par une microphtalmie, un ankyloblépharon et un déficit intellectuel. Il a été décrit chez sept patients de sexe masculin issus de deux générations d'une famille d'Irlande du Nord. Le gène en cause est situé dans la région Xq27-q28. Le syndrome se transmet sur le mode récessif lié à l'X."},"de":{"name":"Mikrophthalmie-Ankyloblepharon-Intelligenzminderung-Syndrom","synonyms":["MCOPS4","Mikrophthalmie, syndromale, Typ 4"],"definition":"Dieses Syndrom ist gekennzeichnet durch Mikrophthalmie, Ankyloblepharon und Intelligenzminderung."},"es":{"name":"Síndrome de microftalmia-anquilobléfaron-discapacidad intelectual","synonyms":["MCOPS4","Microftalmia sindrómica tipo 4"],"definition":"Es un síndrome caracterizado por microftalmia, anquiloblefaron y déficit intelectual. Se ha descrito en siete pacientes varones de dos generaciones de una familia de Irlanda del Norte. El gen causal se localiza en la región Xq27-q28. El síndrome se transmite como un rasgo recesivo ligado al cromosoma X."},"it":{"name":"Sindrome microftalmia-anchiloblefaron-disabilità intellettiva","synonyms":["MCOPS4","Microftalmia sindromica, tipo 4"]},"nl":{"name":"Microftalmie - ankyloblefaron - intellectuele achterstand-syndroom","synonyms":["MCOPS4","Syndromale microftalmie type 4"],"definition":"Een syndroom, gekenmerkt door microftalmie, ankyloblefaron, en intellectuele achterstand. Het werd beschreven bij zeven mannelijke patiënten uit twee generaties van een Noord-Ierse familie. Het causale gen is gelokaliseerd in de regio Xq27-q28. Het syndroom wordt overgedragen als een X-gebonden recessief kenmerk."},"pt":{"name":"Síndrome de microftalmia-anquiloblefaron-perturbação do desenvolvimento intelectual","synonyms":["MCOPS4","Microftlamia sindromática tipo 4"]},"pl":{"name":"Małoocze - zrośnięcie brzegów powiek - niepełnosprawność intelektualna","synonyms":["MCOPS4","Syndromiczne małoocze typu 4"]},"cs":{"name":"Syndrom zahrnující mikroftalmii, ankyloblefaron a mentální retardaci","synonyms":["MCOPS4","Syndromická mikroftalmie, typ 4"]},"uk":{"name":"Синдром мікрофтальмії-анкілоблефарону-інтелектуальної недостатності","synonyms":["MCOPS4","Синдромна мікрофтальмія типу 4"],"definition":"Microphthalmia-ankyloblepharon-intellectual disability syndrome is characterized by microphthalmia, ankyloblepharon and intellectual deficit. It has been described in seven male patients from two generations of a Northern Ireland family. The causative gene is localized to the Xq27-q28 region. The syndrome is transmitted as an X-linked recessive trait."},"zh":{"name":"小眼球-睑缘粘连-智力障碍综合征","synonyms":["综合征性小眼症4型"]},"tr":{"name":"Mikroftalmi-ankiloblefaron-zihinsel yetersizlik sendromu","synonyms":["MCOPS4","Sendromik mikroftalmi tip 4"]}},"xrefs":[{"source":"ICD-10","code":"Q11.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD21.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2141302845"},{"source":"UMLS","code":"C1844948","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5066","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":98565,"name":"Syndromic ankyloblepharon filiforme adnatum","classifications":[147,156,189]},{"orpha":202948,"name":"Syndromic microphthalmia-anophthalmia-coloboma","classifications":[147,156,189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"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":"2016-06-01","source":"1679229[PMID]","terms":[{"hpo":"HP:0009755","label":"Ankyloblepharon","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000528","label":"Anophthalmia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Very frequent (99-80%)","criteria":null}]}}