{"orpha":1308,"name":"C syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["OTCS","Opitz C trigonocephaly","Opitz trigonocephaly C syndrome","Opitz trigonocephaly syndrome","Trigonocephaly C syndrome"],"definition":"C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1308/","orphanet_url":"https://www.orpha.net/en/disease/detail/1308","names":{"fr":{"name":"Syndrome C","synonyms":["OTCS","Syndrome d'Opitz-trigonocéphalie","Trigonocéphalie C d'Opitz"],"definition":"Anomalies congénitales multiples-déficience intellectuelle caractérisées par une trigonocéphalie consécutive à la synostose prématurée de la suture métopique, une dysmorphie faciale, un cou court, des anomalies squelettiques et une déficience intellectuelle variable."},"de":{"name":"C-Syndrom","synonyms":["OTCS","Opitz-C-Trigonozephalie","Opitz-Trigonozephalie-C-Syndrom","Opitz-Trigonozephalie-Syndrom","Trigonozephalie-C-Syndrom","Trigonozephalus-Syndrom Typ Opitz"],"definition":"Das C-Syndrom gehört zur Gruppe der Syndrome mit multiplen kongenitalen Anomalien und Intelligenzminderung. Es ist gekennzeichnet durch Trigonozephalie und Synostose der Sutura metopica (Stirnnaht), dysmorphe Gesichtszüge, kurzen Hals, Skelettanomalien und variable geistige Beeinträchtigung."},"es":{"name":"Síndrome C","synonyms":["OTCS","Síndrome de trigonocefalia C","Síndrome de trigonocefalia C de Opitz","Síndrome de trigonocefalia de Opitz","Trigonocefalia C de Opitz"],"definition":"El síndrome C es un síndrome raro de anomalías congénitas múltiples y discapacidad intelectual caracterizado por sinostosis de la sutura metópica que produce la típica forma de frente puntiaguda que da al craneo un aspecto triangular (trigonocefalia), rasgos faciales dismórficos, cuello corto, anomalías esqueléticas, y discapacidad intelectual variable."},"it":{"name":"Sindrome C","synonyms":["OTCS","Sindrome da trigonocefalia C","Sindrome da trigonocefalia C di Opitz","Sindrome da trigonocefalia di Opitz","Trigonocefalia C di Opitz"],"definition":"La sindrome C è una malattia rara da anomalie congenite multiple/disabilità cognitiva; è caratterizzata da trigonocefalia, sinostosi della sutura metopica, dimorfismi facciali, collo corto, anomalie scheletriche e disabilità cognitiva variabile."},"nl":{"name":"C-syndroom","synonyms":["OTCS","Opitz C-trigonocefalie","Opitz trigonocefalie C-syndroom","Opitz trigonocefaliesyndroom","Trigonocefalie C-syndroom"],"definition":"C-syndroom is een zeldzaam syndroom van multipele congenitale afwijkingen/intellectuele achterstand gekenmerkt door trigonocefalie en metopische synostose van de schedelnaden, dysmorfe gezichtskenmerken, korte nek, skeletafwijkingen en variabele verstandelijke beperking."},"pt":{"name":"Síndrome C","synonyms":["Síndrome trigonocefalia de Opitz"]},"pl":{"name":"Zespół C","synonyms":["OTCS","Zespół trigonocefalii C","Zespół trigonocefalii Opitza"]},"cs":{"name":"C syndrom","synonyms":["OTCS","Opitzova C trigonocefalie","Syndrom Opitzovy C trigonocefalie","Syndrom Opitzovy trigonocefalie","Syndrom C trigonocefalie"]},"uk":{"name":"Синдром С","synonyms":["Тригоноцефалія Опітца С","Синдром тригоноцефалії С Опітца","Синдром тригоноцефалії Опітца","OTCS","Синдром тригоноцефалії С"],"definition":"C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability."},"zh":{"name":"C综合征","synonyms":["Opitz三角头畸形C综合征"]},"tr":{"name":"C sendromu","synonyms":["OTCS","Opitz C trigonosefali","Trigonosefali C sendromu","Opitz trigonosefali sendromu","Opitz trigonosefali C sendromu"]}},"xrefs":[{"source":"OMIM","code":"211750","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.GY","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1482041278"},{"source":"MONDO","code":"0008893","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537418","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796095","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5978","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10083975","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":139393,"name":"Syndromic craniosynostosis","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"CD96","name":"CD96 molecule","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"17847009[PMID]_19449408[PMID]","hgnc":"16892","ensembl":"ENSG00000153283","omim":"606037","loci":["3q13.13-q13.2"]}],"genes_via_subtypes":[],"inheritance":["Not applicable","Unknown"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.11,"area":"Europe","status":"Validated","source":"[EXPERT]_17162528[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004422","label":"Biparietal narrowing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010458","label":"Female pseudohermaphroditism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000212","label":"Gingival overgrowth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100720","label":"Hypoplasia of the ear cartilage","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000319","label":"Smooth philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000243","label":"Trigonocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010978","label":"Abnormality of immune system physiology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004378","label":"Abnormality of the anus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000191","label":"Accessory oral frenulum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007598","label":"Bilateral single transverse palmar creases","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003083","label":"Dislocated radial head","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001531","label":"Failure to thrive in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001373","label":"Joint dislocation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007601","label":"Midline facial capillary hemangioma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001582","label":"Redundant skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000960","label":"Sacral dimple","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001883","label":"Talipes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010720","label":"Abnormal hair pattern","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010318","label":"Aplasia/Hypoplasia of the abdominal wall musculature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007370","label":"Aplasia/Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000776","label":"Congenital diaphragmatic hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001522","label":"Death in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001161","label":"Hand polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000085","label":"Horseshoe kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000003","label":"Multicystic kidney dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001539","label":"Omphalocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008678","label":"Renal hypoplasia/aplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Occasional (29-5%)","criteria":null}]}}