{"orpha":1335,"name":"Pentalogy of Cantrell","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Cantrell deformity","Cantrell syndrome","Thoraco-abdominal syndrome"],"definition":"Pentalogy of Cantrell (POC) is a lethal multiple congenital anomalies syndrome, characterized by the presence of 5 major malformations: midline supraumbilical abdominal wall defect, lower sternal defect, diaphragmatic pericardial defect, anterior diaphragmatic defect and various intracardiac malformations. Ectopia cordis (EC) is often found in fetuses with POC.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1335/","orphanet_url":"https://www.orpha.net/en/disease/detail/1335","names":{"fr":{"name":"Pentalogie de Cantrell","synonyms":["Syndrome de Cantrell","Syndrome thoraco-abdominal"],"definition":"Syndrome létal d'anomalies congénitales multiples, caractérisé par la présence de 5&nbsp;malformations cardinales&nbsp;: hernie supra-ombilicale de la paroi abdominale, anomalie de la partie basse du sternum, défaut de la partie antérieure du diaphragme et du péricarde diaphragmatique, malformations cardiaques. L'ectopie cardiaque (EC) est souvent constatée chez les foetus atteints de pentalogie de Cantrell (PDC)."},"de":{"name":"Cantrell-Pentalogie","synonyms":["Cantrell-Syndrom","Pentalogie Typ Cantrell","Thorako-abdominales Syndrom"],"definition":"Die Cantrell-Pentalogie (POC) ist ein letal verlaufendes Syndrom mit multiplen kongenitalen Anomalien, das durch das Vorhandensein von 5 Hauptfehlbildungen gekennzeichnet ist: supraumbilikaler Bauchwanddefekt in der Mittellinie, unterer Sternumdefekt, perikardialer Zwerchfelldefekt, vorderer Zwerchfelldefekt und verschiedene intrakardiale Fehlbildungen. Ectopia cordis (EC) wird häufig bei Feten mit POC gefunden."},"es":{"name":"Pentalogía de Cantrell","synonyms":["Deformidad de Cantrell","Síndrome de Cantrell","Síndrome toracoabdominal"],"definition":"Es un síndrome polimalformativo congénito, letal, caracterizado por la presencia de 5 malformaciones principales: defectos de la línea media en la pared abdominal supraumbilical, defecto esternal inferior, defecto diafragmático anterior, defecto pericárdico diafragmático y diversos defectos intracardíacos. Con frecuencia, los fetos afectados presentan ectopia cordis (EC)."},"it":{"name":"Pentalogia di Cantrell","synonyms":["Deformità di Cantrell","Sindrome di Cantrell","Sindrome toraco-addominale"]},"nl":{"name":"Pentalogie van Cantrell","synonyms":["Cantrell-misvorming","Syndroom van Cantrell","Thoraco-abdominaal syndroom"],"definition":"Pentalogie van Cantrell (POC) is een letaal syndroom met multipele congenitale anomalieën, en wordt gekarakteriseerd door de aanwezigheid van 5 grote malformaties: mediaan supra-umbilicaal buikwanddefect, defect van het onderste deel van het sternum, diafragmatisch pericardiaal defect, anterieur diafragmatisch defect en verscheidene intracardiale malformaties. Ectopia cordis (EC) wordt vaak aangetroffen bij foetussen met POC."},"pt":{"name":"Pentalogia de Cantrell","synonyms":["Síndrome toraco-abdominal"]},"pl":{"name":"Pentalogia Cantrella","synonyms":["Deformacja Cantrella","Zespół Cantrella","Zespół piersiowo-brzuszny"]},"cs":{"name":"Cantrellova pentalogie","synonyms":["Cantrellova deformita","Torakoabdominální syndrom","Cantrellův syndrom"]},"uk":{"name":"Пентада Кантрелла","synonyms":["Кантрельна деформація","Синдром Кантрелла","Торако-абдомінальний синдром"],"definition":"Pentalogy of Cantrell (POC) is a lethal multiple congenital anomalies syndrome, characterized by the presence of 5 major malformations: midline supraumbilical abdominal wall defect, lower sternal defect, diaphragmatic pericardial defect, anterior diaphragmatic defect and various intracardiac malformations. Ectopia cordis (EC) is often found in fetuses with POC."},"zh":{"name":"Cantrell五联症","synonyms":["胸腹综合征"]},"tr":{"name":"Cantrell pentalojisi","synonyms":["Cantrell sendromu","Cantrell deformitesi","Torako-abdominal sendrom"]}},"xrefs":[{"source":"OMIM","code":"313850","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1894530105"},{"source":"MONDO","code":"0010742","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D058502","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0559483","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7359","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":108979,"name":"Syndromic diaphragmatic or abdominal wall malformation","classifications":[147,182]},{"orpha":180779,"name":"Syndromic diaphragmatic or thoracic malformation","classifications":[186]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.55,"area":"Europe","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.67,"area":"Worldwide","status":"Validated","source":"25092102[PMID]_[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001697","label":"Abnormal pericardium morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000766","label":"Abnormal sternum morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000776","label":"Congenital diaphragmatic hernia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001539","label":"Omphalocele","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002089","label":"Pulmonary hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002992","label":"Abnormality of tibia morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011467","label":"Absent gallbladder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002323","label":"Anencephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006501","label":"Aplasia/Hypoplasia of the radius","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002084","label":"Encephalocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100335","label":"Non-midline cleft of the upper lip","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000202","label":"Orofacial cleft","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001748","label":"Polysplenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000104","label":"Renal agenesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000110","label":"Renal dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001171","label":"Split hand","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001883","label":"Talipes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001636","label":"Tetralogy of Fallot","frequency":"Occasional (29-5%)","criteria":null}]}}