{"orpha":1393,"name":"Cerebrocostomandibular syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1393/","orphanet_url":"https://www.orpha.net/en/disease/detail/1393","names":{"fr":{"name":"Syndrome cérébrocostomandibulaire","definition":"Le syndrome cérébro-costo-mandibulaire (CCMS) est caractérisé chez les nouveau-nés par des lacunes dans la portion postérieure des côtes et des anomalies oro-faciales rappelant le syndrome de Pierre Robin , incluant des anomalies du palais (palais dur court, palais mou absent, uvule absente), une micrognathie et une glossoptose."},"de":{"name":"Zerebro-kosto-mandibuläres Syndrom","definition":"Das Zerebro-kosto-mandibuläre Syndrom (CCMS) ist bei der Geburt durch hintere Rippenlücken und oro-faziale Anomalien gekennzeichnet, die an das Pierre-Robin-Syndrom erinnern (siehe dort). Zu diesen gehören Gaumendefekte (kurzer Vordergaumen, fehlender Hintergaumen, fehlende Uvula), Mikrogenie und Glossoptose."},"es":{"name":"Síndrome cerebrocostomandibular","definition":"El síndrome cerebro-costo-mandibular (CCMS) se caracteriza al nacer por la presencia de espacios vacíos (''gaps'') en la parte posterior de las costillas, y anomalías oro-faciales que recuerdan a la anomalía de Pierre Robin que incluyen defectos del paladar (paladar duro corto, ausencia de paladar blando, ausencia de úvula), micrognatia y glosoptosis."},"it":{"name":"Sindrome cerebro-costo-mandibolare","definition":"La sindrome cerebro-costo-mandibolare (CCMS) è caratterizzata alla nascita da discontinuità nella porzione posteriore delle costole e da anomalie orofacciali che ricordano quelle della sindrome di Pierre Robin, con difetti del palato (palato duro corto, agenesia del palato molle e dell'ugola), micrognazia e glossoptosi."},"nl":{"name":"Cerebro-costo-mandibulair syndroom","definition":"Cerebro-costo-mandibulair syndroom (CCMS) wordt bij de geboorte gekenmerkt door posterieure ribopeningen en orofaciale afwijkingen die doen denken aan Pierre Robinsyndroom (zie deze term) dat palatale defecten (kort hard gehemelte, ontbrekend zacht gehemelte, ontbrekende huig), micrognathie en glossoptosis omvat."},"pt":{"name":"Síndrome cerebro-costo-mandibular"},"pl":{"name":"Zespół mózgowo-żebrowo-żuchwowy"},"cs":{"name":"Cerebrokostomandibulární syndrom"},"uk":{"name":"Цереброкостомандибулярний синдром","definition":"Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome (see this term) that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis."},"zh":{"name":"大脑肋骨下颌综合征"},"tr":{"name":"Serebrokostomandibular sendrom"}},"xrefs":[{"source":"OMIM","code":"117650","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.H","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1475063064"},{"source":"MONDO","code":"0007301","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562538","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265342","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6026","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10088264","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"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":728642,"name":"Genetic syndrome or malformation associated with head and neck malformations","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":156237,"name":"Syndrome or malformation associated with head and neck malformations","classifications":[147,200,209]}],"children":[],"genes":[{"symbol":"SNRPB","name":"small nuclear ribonucleoprotein polypeptides B and B1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25047197[PMID]","hgnc":"11153","ensembl":"ENSG00000125835","omim":"182282","loci":["20p13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","Not applicable"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":75.0,"area":"Worldwide","status":"Validated","source":"20507350[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001591","label":"Bell-shaped thorax","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002643","label":"Neonatal respiratory distress","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030282","label":"Posterior rib gap","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000413","label":"Atresia of the external auditory canal","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001522","label":"Death in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000162","label":"Glossoptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002779","label":"Tracheomalacia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002514","label":"Cerebral calcification","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002324","label":"Hydranencephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002435","label":"Meningocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000003","label":"Multicystic kidney dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002475","label":"Myelomeningocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002132","label":"Porencephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010290","label":"Short hard palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002414","label":"Spina bifida","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000465","label":"Webbed neck","frequency":"Occasional (29-5%)","criteria":null}]}}