{"orpha":3338,"name":"Toriello-Carey syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Corpus callosum agenesis-blepharophimosis-Robin sequence syndrome"],"definition":"Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3338/","orphanet_url":"https://www.orpha.net/en/disease/detail/3338","names":{"fr":{"name":"Syndrome de Toriello-Carey","synonyms":["Syndrome d'agénésie du corps calleux-blépharophimosis-séquence de Robin"],"definition":"Le syndrome de Toriello-Carey est un syndrome d'anomalies congénitales multiples caractérisé par une dysmorphie crânio-faciale, des anomalies cérébrales, des difficultés de déglutition, des anomalies cardiaques et une hypotonie."},"de":{"name":"Toriello-Carey-Syndrom","synonyms":["Corpus-callosum-Agenesie - Blepharophimosis - Pierre-Robin-Sequenz"],"definition":"Das Toriello-Carey-Syndrom ist ein Syndrom mit multiplen angeborenen Anomalien und gekennzeichnet durch kraniofaziale Dysmorphien, Hirnfehlbildungen, Schluckschwierigkeiten, Herzfehler und Muskelhypotonie."},"es":{"name":"Síndrome de Toriello-Carey","definition":"El síndrome de Toriello-Carey es un síndrome de anomalías congénitas múltiples caracterizado por rasgos dismórficos craneofaciales, anomalías cerebrales, dificultades para tragar, defectos cardíacos e hipotonía."},"it":{"name":"Sindrome di Toriello-Carey","synonyms":["Agenesia del corpo calloso - blefarofimosi - sequenza di Pierre Robin"],"definition":"La sindrome di Toriello-Carey è una malattia da anomalie congenite multiple, caratterizzata da dismorfismi craniofacciali, anomalie cerebrali, difficoltà alla deglutizione, cardiopatie e ipotonia."},"nl":{"name":"Syndroom van Toriello-Carey","synonyms":["Agenesie van corpus callosum - blefarofimose - Robin sequentie-syndroom"],"definition":"Een syndroom met multipele congenitale anomalieën, gekenmerkt door craniofaciale dysmorfe kenmerken, cerebrale anomalieën, moeilijkheden met slikken, hartdefecten, en hypotonie."},"pt":{"name":"Síndrome Toriello-Carey","synonyms":["Síndrome de agenesia do corpo caloso-blefarofimose-sequência de Robin"],"definition":"A síndrome de Toriello-Carey é uma síndrome de anomalias congénitas múltiplas caracterizada por dismorfia craniofacial, anomalias cerebrais, dificuldades na deglutição, defeitos cardíacos e hipotonia."},"pl":{"name":"Zespół Toriello i Careya","synonyms":["Agnezja ciała modzelowatego - zwężenie szpar powiekowych - sekwencja Robina"]},"cs":{"name":"Toriellové-Careyův syndrom","synonyms":["Syndrom zahrnující agenezi corpus callosum, blefarofimózu a Robinovu sekvenci","Toriello-Careyův syndrom"]},"uk":{"name":"Синдром Торіелло-Кейрі","synonyms":["Синдром агенезії мозолистого тіла - блефарофімозу - послідовності Робіна"],"definition":"Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia."},"zh":{"name":"Toriello-Carey 综合征","synonyms":["胼胝体发育不全-睑裂狭小-Robin序列征综合征"]},"tr":{"name":"Toriello-Carey sendromu","synonyms":["Korpus kallozum agenezi-blefarofimoz-Robin dizisi sendromu"]}},"xrefs":[{"source":"OMIM","code":"217980","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"147297969"},{"source":"MONDO","code":"0009021","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563127","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796184","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5225","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":269573,"name":"Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature","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]},{"orpha":199639,"name":"Syndrome with corpus callosum agenesis/dysgenesis as a major feature","classifications":[147,181]}],"children":[],"genes":[{"symbol":"DDX3X","name":"DEAD-box helicase 3 X-linked","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"28371085[PMID]_26235985[PMID]","hgnc":"2745","ensembl":"ENSG00000215301","omim":"300160","loci":["Xp11.4"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":59.0,"area":"Worldwide","status":"Validated","source":"27510950[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27510950[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2022-12-06","source":"27510950[PMID]_27748028[PMID]_14556252[PMID]","terms":[{"hpo":"HP:0001273","label":"Abnormal corpus callosum morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012745","label":"Short palpebral fissure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001671","label":"Abnormal cardiac septum morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000174","label":"Abnormal palate morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002251","label":"Aganglionic megacolon","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001545","label":"Anteriorly placed anus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000293","label":"Full cheeks","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000260","label":"Wide anterior fontanel","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001600","label":"Abnormality of the larynx","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007360","label":"Aplasia/Hypoplasia of the cerebellum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002059","label":"Cerebral atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030084","label":"Clinodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000774","label":"Narrow chest","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002643","label":"Neonatal respiratory distress","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001338","label":"Partial agenesis of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001642","label":"Pulmonic stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0045075","label":"Sparse eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000391","label":"Thickened helices","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009892","label":"Anotia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001680","label":"Coarctation of aorta","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001305","label":"Dandy-Walker malformation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001636","label":"Tetralogy of Fallot","frequency":"Very rare (<4-1%)","criteria":null}]}}