{"orpha":195,"name":"Cat-eye syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["CES"],"definition":"Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-195/","orphanet_url":"https://www.orpha.net/en/disease/detail/195","names":{"fr":{"name":"Syndrome du cat-eye","synonyms":["CES","Syndrome de l'oeil de chat","Syndrome des yeux de chat"],"definition":"Maladie chromosomique rare dont la présentation clinique est très variable. La plupart des patients présentent de multiples malformations affectant les yeux (colobome de l'iris), les oreilles (sinus et/ou enchondromes préauriculaires), la région anale (atrésie anale), le coeur et les reins. Une déficience intellectuelle légère est généralement observée ou alors une intelligence à la limite de la moyenne est rapportée."},"de":{"name":"Katzenaugensyndrom","synonyms":["CES","Cat-Eye-Syndrom","Iriskolobom - Analatresie","Schmid-Fraccaro-Syndrom"],"definition":"Das Katzenaugensyndrom (CES) ist eine seltene Chromosomenstörung mit einer sehr variablen klinischen Präsentation. Die meisten Patienten weisen multiple Fehlbildungen auf, die die Augen (Iris-Kolobom), die Ohren (präaurikuläre Gruben und/oder Anhänge), die Analregion (Analatresie), das Herz und die Nieren betreffen. Die Intelligenz ist in der Regel leicht beeinträchtig oder grenzwertig normal."},"es":{"name":"Síndrome del ojo de gato","synonyms":["CES"],"definition":"El síndrome del ojo de gato (CES) es un trastorno cromosómico poco frecuente con un cuadro clínico muy variable. La mayoría de pacientes presenta múltiples malformaciones que afectan a los ojos (coloboma del iris), a las orejas (fositas preauriculares y/o apéndices), a la región anal (atresia anal), al corazón y a los riñones. Por lo habitual, el retraso intelectual es leve o límite."},"it":{"name":"Sindrome ''cat-eye''","synonyms":["CES"],"definition":"La sindrome dell'occhio di gatto (CES) è una malattia cromosomica rara, caratterizzata da un quadro clinico molto variabile. La maggior parte dei pazienti presenta difetti degli occhi (coloboma dell'iride), delle orecchie (fossette e/o appendici preauricolari), della regione anale (atresia anale), del cuore e dei reni. La disabilità cognitiva è di solito lieve o lo sviluppo normale borderline."},"nl":{"name":"Kattenoogsyndroom","synonyms":["CES"],"definition":"Kattenoogsyndroom (CES) is een zeldzame chromosomale stoornis met een zeer variabel klinisch beeld. De meeste patiënten hebben meervoudige malformaties die ogen (iriscoloboom), oren (preauriculaire fistels en/of aanhangsels), anale regio (anusatresie), hart en nieren treffen. Intellectuele achterstand is doorgaans mild of nagenoeg normaal."},"pt":{"name":"Síndrome \"cat-eye\"","synonyms":["CES"]},"pl":{"name":"Zespół kociego oka","synonyms":["Inwersja/duplikacja chromosomu 22","Szczelina oka - zarośnięcie odbytu"],"definition":"Zespół kociego oka (Cat eye syndrome – CES) to rzadkie zaburzenie chromosomalne z bardzo zmiennym obrazem klinicznym. Większość pacjentów ma mnogie wady oczu (rozszczep tęczówki), uszu (dołki i(lub) wyrostki przeduszne), okolicy odbytu (atrezja odbytu), serca i nerek. Niepełnosprawność intelektualna jest najczęściej łagodna lub na granicy normy."},"cs":{"name":"Syndrom kočičího oka","synonyms":["CES","Cat-eye syndrom"]},"uk":{"name":"Синдром котячого ока","synonyms":["CES"],"definition":"Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal."},"zh":{"name":"猫眼综合征","synonyms":["CES"]},"tr":{"name":"Kedi-gözü sendromu","synonyms":["CES"]}},"xrefs":[{"source":"OMIM","code":"115470","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q92.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD41.P","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1813923633"},{"source":"MONDO","code":"0007276","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535918","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265493","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"26","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":519276,"name":"Anterior segment developmental anomaly with extraocular manifestations","classifications":[147,156,189]},{"orpha":263708,"name":"Complex chromosomal rearrangement syndrome","classifications":[147,156]},{"orpha":117573,"name":"Syndromic anorectal malformation","classifications":[147,156,182,233]},{"orpha":93547,"name":"Syndromic renal or urinary tract malformation","classifications":[147,156,188,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.35,"area":"Europe","status":"Validated","source":"17001329[PMID]_Dr Catherine TURLEAU[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET_Dr Catherine TURLEAU[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004467","label":"Preauricular pit","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000384","label":"Preauricular skin tag","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100542","label":"Abnormal localization of kidney","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000567","label":"Chorioretinal coloboma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001385","label":"Hip dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008678","label":"Renal hypoplasia/aplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000078","label":"Abnormality of the genital system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Occasional (29-5%)","criteria":null}]}}