{"orpha":7,"name":"3C syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Craniocerebellocardiac dysplasia","Ritscher-Schinzel syndrome"],"definition":"Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-7/","orphanet_url":"https://www.orpha.net/en/disease/detail/7","names":{"fr":{"name":"Syndrome 3C","synonyms":["Dysplasie cranio-cérébello-cardiaque","Syndrome de Ritscher-Schinzel"],"definition":"Le syndrome 3C est un syndrome rare d'anomalies congénitales multiples. Il se caractérise par des anomalies craniofaciales (occiput et front proéminents, hypertélorisme, colobome oculaire, fente palatine), cérébelleuses (malformation de Dandy-Walker, hypoplasie cérébrale du vermis) et cardiaques (tétralogie de Fallot, communication atrioventriculaire)."},"de":{"name":"3C-Syndrom","synonyms":["Dysplasie, kardiale kraniozerebelläre","Ritscher-Schinzel-Syndrom"]},"es":{"name":"Síndrome 3C","synonyms":["Displasia craneo-cerebelo-cardíaca","Síndrome de Ritscher Schinzel"],"definition":"El síndrome cráneo - cerebelo - cardíaco (síndrome 3C) es un síndrome de anomalías congénitas múltiples poco frecuente caracterizado por anomalías craneofaciales (frente y occipucio prominentes, hipertelorismo, coloboma ocular, paladar hendido), cerebelosas (malformación de Dandy-Walker, hipoplasia del vermis cerebeloso) y cardíacas (tetralogía de Fallot, comunicación interauricular e interventricular)."},"it":{"name":"Sindrome 3C","synonyms":["Displasia cranio-cerebello-cardiaca","Sindrome di Ritscher-Schinzel"],"definition":"La sindrome cranio-cerebello-cardiaca (3C) è una malattia rara da difetti congeniti multipli, caratterizzata da anomalie craniofacciali (occipite e fronte prominenti, ipertelorismo, coloboma oculare, palatoschisi), cerebellari (malformazione di Dandy-Walker, ipoplasia del verme cerebellare) e cardiache (tetralogia di Fallot, difetti del setto atriale e ventricolare)."},"nl":{"name":"3C-syndroom","synonyms":["Cranio-cerebello-cardiale dysplasie","Syndroom van Ritscher-Schinzel"],"definition":"Cranio-cerebello-cardiaal (3C) syndroom is een zeldzaam syndroom met multipele congenitale anomalieën dat gekarakteriseerd wordt door craniofaciale (prominent achter- en voorhoofd, hypertelorisme, oculair coloboom, gespleten verhemelte), cerebellaire (malformatie van Dandy-Walker, hypoplasie van de vermis cerebelli) en cardiale (tetralogie van Fallot, atrium- en ventrikelseptumdefecten) anomalieën."},"pt":{"name":"Síndrome 3C","synonyms":["Displasia cranio-cerebelo-cardíaca","Síndrome Ritscher-Schinzel"],"definition":"A síndrome crânio-cerebelo-cardíaca (3C) é uma síndrome rara de múltiplas anomalias congénitas caracterizada por anomalias craniofaciais (occipital e fronte proeminentes, hipertelorismo, coloboma ocular, fenda palatina), cerebelosas (malformação Dandy-Walker, hipoplasia do vérmis cerebeloso) e cardíacas (tetralogia Fallot, defeitos do septo auricular e ventricular)."},"pl":{"name":"Zespół 3C","synonyms":["Dysplazja czaszkowo - mózgowo - sercowa","Zespół Ritschera i Schinzela"]},"cs":{"name":"3C syndrom","synonyms":["Kraniocerebelokardiální dysplázie","Ritscherův-Schinzelův syndrom","Ritscher-Schinzelův syndrom"]},"uk":{"name":"Синдром 3С","synonyms":["Краніоцеребеллокардіальна дисплазія","Синдром Рітшера-Шинцеля"],"definition":"Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies (see these terms)."},"zh":{"name":"3C综合征","synonyms":["颅脑小脑心血管发育不全"]},"tr":{"name":"3C sendromu","synonyms":["Ritscher-Schinzel sendromu","Kraniyoserebellokardiyak displazi"]}},"xrefs":[{"source":"OMIM","code":"220210","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"300963","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619135","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619435","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0019078","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535313","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796137","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5666","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":269570,"name":"Genetic syndrome with a Dandy-Walker malformation as a major feature","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":269546,"name":"Syndrome with a Dandy-Walker malformation as a major feature","classifications":[147,181]}],"children":[],"genes":[{"symbol":"CCDC22","name":"CCC complex scaffolding subunit CCDC22","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24916641[PMID]","hgnc":"28909","ensembl":"ENSG00000101997","omim":"300859","loci":["Xp11.23"]},{"symbol":"DPYSL5","name":"dihydropyrimidinase like 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"33894126[PMID]","hgnc":"20637","ensembl":"ENSG00000157851","omim":"608383","loci":["2p23.3"]},{"symbol":"VPS35L","name":"VPS35 endosomal protein sorting factor like","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31712251[PMID]","hgnc":"24641","ensembl":"ENSG00000103544","omim":"618981","loci":["16p12.3"]},{"symbol":"WASHC5","name":"WASH complex subunit 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24065355[PMID]","hgnc":"28984","ensembl":"ENSG00000164961","omim":"610657","loci":["8q24.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive","X-linked recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":25.0,"area":"Worldwide","status":"Validated","source":"18957854[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_18957854[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","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:0001305","label":"Dandy-Walker malformation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001633","label":"Abnormal mitral valve morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001702","label":"Abnormal tricuspid valve morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001650","label":"Aortic valve stenosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007360","label":"Aplasia/Hypoplasia of the cerebellum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006695","label":"Atrioventricular canal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001522","label":"Death in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002705","label":"High, narrow palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004383","label":"Hypoplastic left heart","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000269","label":"Prominent occiput","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001642","label":"Pulmonic stenosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001636","label":"Tetralogy of Fallot","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002269","label":"Abnormality of neuronal migration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003272","label":"Abnormality of the hip bone","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000835","label":"Adrenal hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006709","label":"Aplasia/Hypoplasia of the nipples","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000567","label":"Chorioretinal coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004397","label":"Ectopic anus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000329","label":"Facial hemangioma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001161","label":"Hand polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002937","label":"Hemivertebrae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001804","label":"Hypoplastic fingernail","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002566","label":"Intestinal malrotation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000921","label":"Missing ribs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000202","label":"Orofacial cleft","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000384","label":"Preauricular skin tag","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001195","label":"Single umbilical artery","frequency":"Occasional (29-5%)","criteria":null}]}}