{"orpha":3374,"name":"Unilateral ocular duplication","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Triophthalmia","Triopia","Unilateral diplophthalmia","Unilateral diplophthalmos"],"definition":"A rare developmental defect during embryogenesis characterized by unilateral duplication of an eye which may appear as a synophthalmic eye in a single orbit or as two separate unilateral eyes, each in a separate orbit. The malformation is always associated with other anomalies of the central nervous system (such as porencephaly, meningocele, or arachnoidal cysts) and with craniofacial abnormalities. A proboscis is often found. Clinically, moderate intellectual disability and epilepsy are typical.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3374/","orphanet_url":"https://www.orpha.net/en/disease/detail/3374","names":{"fr":{"name":"Triopie","synonyms":["Diplophtalmie unilatérale","Duplication oculaire unilatérale","Triophtalmie"],"definition":"Anomalie rare du développement embryonnaire caractérisée par la duplication unilatérale d'un oeil qui peut prendre la forme d'une synophtalmie réunissant les deux yeux dans une orbite unique ou de deux yeux séparés, placés de manière unilatérale, chacun dans une orbite distincte. La malformation est toujours associée à d'autres anomalies du système nerveux central (à type de porencéphalie, de méningocèle ou de kystes arachnoïdiens) et à des anomalies craniofaciales. La présence d'un proboscis est fréquente. Sur le plan clinique, un retard mental modéré et une épilepsie sont typiques."},"de":{"name":"Unilaterale okuläre Duplikation","synonyms":["Diplophthalmie, unilaterale","Triophthalmie","Triopie"],"definition":"Eine seltene Entwicklungsstörung während der Embryogenese, die durch eine einseitige Verdopplung eines Auges gekennzeichnet ist, das als synophthalmisches Auge in einer einzigen Augenhöhle oder als zwei getrennte einseitige Augen in jeweils einer Augenhöhle auftreten kann. Die Fehlbildung geht immer mit anderen Anomalien des Zentralnervensystems (wie Porenzephalie, Meningozele oder Arachnoidalzysten) und mit kraniofazialen Anomalien einher. Häufig ist eine Rüsselbildung zu beobachten. Klinisch typisch sind eine moderate Intelligenzminderung und Epilepsie."},"es":{"name":"Duplicación ocular unilateral","synonyms":["Trioftalmia","Triopía"],"definition":"Es un defecto poco frecuente del desarrollo durante la embriogénesis caracterizado por la duplicación unilateral de un ojo que puede aparecer como un ojo sinoftálmico en una sola órbita o como dos ojos unilaterales separados, cada uno en una órbita separada. La malformación se asocia en todos los casos con otras anomalías del sistema nervioso central (como porencefalia, meningocele o quistes aracnoideos) y con anomalías craneofaciales. Suele asociar una probóscide. Clínicamente, son típicas la discapacidad intelectual moderada y la epilepsia."},"it":{"name":"Duplicazione oculare monolaterale","synonyms":["Diploftalmia monolaterale","Diploftalmo monolaterale","Trioftalmia","Triopia"]},"nl":{"name":"Unilaterale oculaire duplicatie","synonyms":["Trioftalmie","Triopie","Unilaterale diploftalmie","Unilaterale diplophthalmos"],"definition":"Een zeldzaam ontwikkelingsdefect tijdens de embryogenese, gekenmerkt door unilaterale duplicatie van een oog dat kan optreden als een synoftalmisch oog in één enkele oogkas of als twee aparte unilaterale ogen, elk in een aparte oogkas. De malformatie is altijd geassocieerd met andere anomalieën van het centrale zenuwstelsel (zoals porencefalie, meningocele, of arachnoïdale cysten) en met craniofaciale afwijkingen. Een proboscis wordt vaak aangetroffen. Klinisch zijn matige intellectuele achterstand en epilepsie typerend."},"pt":{"name":"Duplicação ocular unilateral","synonyms":["Diploftlamia unilateral","Diploftlamos unilateral","Trioftalmia","Triopia"],"definition":"Doença rara do desenvolvimento durante a embriogénese caracterizada por duplicação unilateral de um olho, que pode aparecer como um olho sinoftálmico numa única órbita ou como dois olhos unilaterais separados, cada um numa órbita separada. A malformação está sempre associada a outras anomalias do sistema nervoso central (como porencefalia, meningocelo ou quistos aracnóides) e a anomalias craniofaciais. É frequente a existência de probóscide. Clinicamente, é típica a ocorrência de perturbação do desenvolvimento intelectual moderada e epilepsia."},"pl":{"name":"Triopia","synonyms":["Jednostronne zdwojenie oka"]},"cs":{"name":"Triopie","synonyms":["Triophthalmia","Triopia","Unilateral diplophthalmia","Unilateral diplophthalmos"]},"uk":{"name":"Одностороння окулодуплікація","synonyms":["Триофтальмія","Тріопія","Одностороння диплофтальмія","Односторонній диплофтальм"],"definition":"A rare developmental defect during embryogenesis characterized by unilateral duplication of an eye which may appear as a synophthalmic eye in a single orbit or as two separate unilateral eyes, each in a separate orbit. The malformation is always associated with other anomalies of the central nervous system (such as porencephaly, meningocele, or arachnoidal cysts) and with craniofacial abnormalities. A proboscis is often found. Clinically, moderate mental retardation and epilepsy are typical."},"zh":{"name":"斜视"},"tr":{"name":"Triopia"}},"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":"0031322","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"31322","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5816687","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5286","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":522568,"name":"Rare genetic disorder of the pupil","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_17558850[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000534","label":"Abnormal eyebrow morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000615","label":"Abnormal pupil morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000235","label":"Abnormality of the fontanelles or cranial sutures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000951","label":"Abnormality of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000581","label":"Blepharophimosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002084","label":"Encephalocele","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001601","label":"Laryngomalacia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000161","label":"Median cleft lip","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000482","label":"Microcornea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100629","label":"Midline facial cleft","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Very frequent (99-80%)","criteria":null}]}}