{"orpha":1394,"name":"Cerebrofaciothoracic dysplasia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Pascual-Castroviejo syndrome type 1"],"definition":"Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1394/","orphanet_url":"https://www.orpha.net/en/disease/detail/1394","names":{"fr":{"name":"Dysplasie cérébrofaciothoracique","synonyms":["Syndrome de Pascual-Castroviejo type 1"],"definition":"La dysplasie cérébro-facio-thoracique ou syndrome de Pascual-Castroviejo type 1 est un syndrome rare associant une dysmorphie faciale, un déficit intellectuel et des malformations costales et vertébrales."},"de":{"name":"Dysplasie, zerebro-fazio-thorakale","synonyms":["Pascuel-Castroviejo-Syndrom Typ 1"],"definition":"Die Zerebro-fazio-thorakale Dysplasie, auch Pascual-Castroviejo-Syndrom Typ 1 genannt, ist ein seltenes Syndrom mit kranio-fazialen Dysmorphien, intellektuellem Defizit und costo-vertebralen Anomalien."},"es":{"name":"Displasia cerebro-facio-torácica","synonyms":["Síndrome de Pascual-Castroviejo tipo 1"],"definition":"La displasia cerebro-facio-torácica o síndrome de Pascual-Castroviejo tipo 1 es un síndrome poco frecuente que asocia dismorfia facial, discapacidad intelectual y malformaciones costales y vertebrales."},"it":{"name":"Displasia cerebro-facio-toracica","synonyms":["Sindrome di Pascual Castroviejo, tipo 1"]},"nl":{"name":"Cerebrofaciothoracale dysplasie","synonyms":["Syndroom van Pascual-Castroviejo type 1"],"definition":"Een zeldzaam syndroom, gekenmerkt door faciale dysmorfie, intellectuele achterstand, en costovertebrale afwijkingen."},"pt":{"name":"Displasia cerebro-facio-torácica","synonyms":["Síndrome Pascuel-Castroviejo"],"definition":"A displasia cerebro-facio-torácica ou síndrome Pascual-Castroviejo tipo 1 é um síndrome raro caracterizado por dismorfismo facial, atraso mental e anomalias costovertebrais."},"pl":{"name":"Dysplazja mózgowo-twarzowo-piersiowa","synonyms":["Zespół Pascuala i Castroviejo typu 1"]},"cs":{"name":"Cerebrofaciotorakální dysplázie","synonyms":["Pascual-Castroviejův syndrom, typ 1"]},"uk":{"name":"Цереброфаціально-грудна дисплазія","synonyms":["Синдром Паскуаля-Кастровєхо, тип 1"],"definition":"Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities."},"zh":{"name":"颅面畸形和智力迟滞、骨骼异常综合征","synonyms":["Pascual-Castroviejo综合征1型"]},"tr":{"name":"Serebrofasiyotorasik displazi","synonyms":["Pascual-Castroviejo sendromu tip 1"]}},"xrefs":[{"source":"OMIM","code":"213980","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616994","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.H","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"804357902"},{"source":"MONDO","code":"800436","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565862","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1859252","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1210","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":228407,"name":"Craniofacial dysmorphism-skeletal anomalies-intellectual disability syndrome","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":93454,"name":"Dysostosis with predominant vertebral and costal involvement","classifications":[147,156,199]},{"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]}],"children":[],"genes":[{"symbol":"TMCO1","name":"transmembrane and coiled-coil domains 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24194475[PMID]","hgnc":"18188","ensembl":"ENSG00000143183","omim":"614123","loci":["1q24.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":20.0,"area":"Worldwide","status":"Validated","source":"24194475[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24194475[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000892","label":"Bifid ribs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000289","label":"Broad philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002937","label":"Hemivertebrae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000774","label":"Narrow chest","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000902","label":"Rib fusion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000574","label":"Thick eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000445","label":"Wide nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010720","label":"Abnormal hair pattern","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001320","label":"Cerebellar vermis hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002208","label":"Coarse hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100790","label":"Hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002162","label":"Low posterior hairline","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","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:0000912","label":"Sprengel anomaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003422","label":"Vertebral segmentation defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000204","label":"Cleft upper lip","frequency":"Occasional (29-5%)","criteria":null}]}}