{"orpha":2328,"name":"Kapur-Toriello syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Cleft lip/palate-facial, eye, heart and intestinal anomalies syndrome"],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe intellectual disability, facial dysmorphism (low-set and malformed ears, bulbous nasal tip, low hanging columella, bilateral cleft lip and palate), eye anomalies (microophthalmia, coloboma), intestinal abnormalities and heart defects.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2328/","orphanet_url":"https://www.orpha.net/en/disease/detail/2328","names":{"fr":{"name":"Syndrome de Kapur-Toriello","synonyms":["Syndrome de fente labiopalatine-cardiopathie-malrotation intestinale"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique caractérisé par une déficience intellectuelle sévère, une dysmorphie faciale (oreilles malformées d'implantation basse, pointe nasale bulbeuse, columelle pendante, fente labiale et palatine bilatérale), des anomalies oculaires (microophtalmie, colobome), des anomalies intestinales et des malformations cardiaques."},"de":{"name":"Kapur-Toriello-Syndrom","synonyms":["Lippen-Kiefer-Gaumenspalte - Kardiopathie - intestinale Malrotation"],"definition":"Das Kapur-Toriello-Syndrom ist extrem selten und gekennzeichnet durch faziale Dysmorphien, schweres intellektuelles Defizit, Fehlbildung des Herzens und des Darmtraktes sowie retardiertes Wachstum."},"es":{"name":"Síndrome de Kapur-Toriello","definition":"El síndrome de Kapur-Toriello es un síndrome extremadamente raro caracterizado por: dismorfismo facial, déficit intelectual grave, cardiopatías, anomalías digestivas y retraso en el desarrollo."},"it":{"name":"Sindrome di Kapur-Toriello","synonyms":["Labiopalatoschisi - cardiopatia - malrotazione intestinale"]},"nl":{"name":"Syndroom van Kapur-Toriello","synonyms":["Gespleten lip/gehemelte - afwijkingen van gelaat, oog, hart en darm-syndroom"],"definition":"Een uiterst zeldzaam syndroom, gekenmerkt door faciale dysmorfie, ernstige intellectuele achterstand, anomalieën van hart en darm, en groeiretardatie."},"pt":{"name":"Síndrome Kapur-Toriello","synonyms":["Síndrome fenda lábio-palatina-anomalias facio-óculo-cardio-intestinais"],"definition":"A síndrome de Kapur-Toriello é uma síndrome extremamente rara caracterizada por dismorfismo facial, défice cognitivo grave, anomalias cardíacas e intestinais, e atraso do crescimento."},"pl":{"name":"Zespół Kapura i Toriello","synonyms":["Rozszczep wargi/podniebienia - - wady twarzy, oka, serca i jelit"]},"cs":{"name":"Kapurův-Toriellův syndrom","synonyms":["Syndrom zahrnující rozštěp rtu/patra, anomálie oka, srdce a střev","Kapur-Toriellův syndrom"]},"uk":{"name":"Синдром Капура-Торіелло","synonyms":["Синдром розщілини губи/піднебіння-лицевих, очних, серцевих та кишкових аномалій"],"definition":"Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation."},"zh":{"name":"Kapur-Toriello综合征","synonyms":["唇腭裂-面眼心肠异常综合征"]},"tr":{"name":"Kapur-Toriello sendromu","synonyms":["Yarık dudak / damak-fasiyal, göz, kalp ve bağırsak anomalileri sendromu"]}},"xrefs":[{"source":"OMIM","code":"244300","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009483","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537008","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796005","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3078","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":139039,"name":"Orofacial clefting syndrome","classifications":[147,156,200,209]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"1776630[PMID]_10319207[PMID]_18831061[PMID]_20358618[PMID]_26049588[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_1776630[PMID]_10319207[PMID]_18831061[PMID]_20358618[PMID]_26049588[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-11-27","source":null,"terms":[{"hpo":"HP:0000414","label":"Bulbous nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000202","label":"Orofacial cleft","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000480","label":"Retinal coloboma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000059","label":"Hypoplastic labia majora","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002566","label":"Intestinal malrotation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000413","label":"Atresia of the external auditory canal","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006989","label":"Dysplastic corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001302","label":"Pachygyria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002126","label":"Polymicrogyria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000384","label":"Preauricular skin tag","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001636","label":"Tetralogy of Fallot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null}]}}