{"orpha":2351,"name":"Kousseff syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Sacral meningocele-conotruncal heart defects syndrome"],"definition":"A rare syndromic central nervous system malformation characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2351/","orphanet_url":"https://www.orpha.net/en/disease/detail/2351","names":{"fr":{"name":"Syndrome de Kousseff","synonyms":["Syndrome de meningocèle sacré-anomalie conotroncale"],"definition":"Le syndrome de Kousseff associe une malformation cardiaque de type conotroncale, une myelomeningocèle et une dysmorphie craniofaciale, évocatrice du syndrome de Monosomie 22q11."},"de":{"name":"Kousseff-Syndrom","definition":"Eine seltene syndromale Fehlbildung des zentralen Nervensystems, die durch die Kombination von konotrunkalen Herzfehlern, Myelomeningozele und kraniofazialen Dysmorphien gekennzeichnet ist, ähnlich wie bei Monosomie 22q11."},"es":{"name":"Síndrome de Kousseff","definition":"Es una malformación sindrómica poco frecuente del sistema nervioso central caracterizada por la asociación de defectos cardíacos conotruncales, mielomeningocele y dismorfia craneofacial similar a la observada en la monosomía 22q11."},"it":{"name":"Sindrome di Kousseff","synonyms":["Meningocele del sacro - cardiopatia troncoconale"]},"nl":{"name":"Syndroom van Kousseff","synonyms":["Sacrale meningocele - conotruncale hartdefecten-syndroom"],"definition":"Een zeldzame syndromale malformatie van centraal zenuwstelsel, gekenmerkt door de associatie van conotruncale hartdefecten, myelomeningocele, en craniofaciale dysmorfie gelijkend op wat wordt waargenomen bij monosomie 22q11."},"pt":{"name":"Síndrome Kousseff","synonyms":["Síndrome de meningocelo sagrado-cardiopatia conotruncal"],"definition":"Uma malformação sindromática rara do sistema nervoso central caracterizada pela associação de anomalias cardíacas conotruncais, mielomeningocelo e dismorfismo craniofacial semelhante ao observado na monossomia 22q11."},"pl":{"name":"Zespół Kousseffa","synonyms":["Krzyżowa przepuklina oponowa - wady stożka i pnia naczyniowego serca"]},"cs":{"name":"Kousseffův syndrom","synonyms":["Syndrom zahrnující sakrální meningokélu a konotrunkální srdeční vady"]},"uk":{"name":"Синдром Куссефа","synonyms":["Синдром крижового менінгоцеле-конотрункулярної вади серця"],"definition":"A rare syndromic central nervous system malformation characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11."},"zh":{"name":"Kousseff综合征","synonyms":["脊膜膨出-圆锥动脉干畸形综合征"]},"tr":{"name":"Kousseff sendromu","synonyms":["Sakral meningosel-konotrunkal kalp defektleri sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0016522","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537223","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931444","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4752","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":269531,"name":"Other syndrome with a central nervous system malformation as a major feature","classifications":[147,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"22380655[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_22380655[PMID]"}],"phenotypes":null}