{"orpha":1759,"name":"Thoraco-abdominal enteric duplication","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Thoraco-abdominal enteric duplication is a rare, syndromic intestinal malformation characterized by single or multiple smooth-walled, often tubular, cystic lesions, which on occasion contain ectopic gastric mucosa, located in the thorax (usually in the posterior mediastinum and to the right of the midline) and in the abdomen. Infants usually present with respiratory distress and older patients with heartburn, abdominal pain, vomiting and/or melena. Vertebral anomalies in the lower cervical spine, with CNS involvement, are frequently present and complications, such as bowel obstruction, perforation and intussusception, have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1759/","orphanet_url":"https://www.orpha.net/en/disease/detail/1759","names":{"fr":{"name":"Duplication entérique thoraco-abdominale","definition":"La duplication entérique thoraco-abdominale est une malformation intestinale syndromique rare caractérisée par des lésions kystiques uniques ou multiples, à paroi lisse, souvent tubulaires et pouvant contenir une muqueuse gastrique ectopique. Elles sont situées au niveau thoracique (généralement au niveau du médiastin postérieur, dans la partie droite de la ligne médiane) et abdominal. Les nourrissons présentent généralement une détresse respiratoire, et les patients plus âgés, des brûlures d'estomac, une douleur abdominale, des vomissements et/ou un méléna. Des anomalies vertébrales sont fréquemment rapportées au niveau inférieur du rachis cervical avec atteinte du système nerveux central. Des complications ont aussi été rapportées, comme une obstruction, une perforation et une invagination intestinale."},"de":{"name":"Thorakoabdominale enterale Duplikation","definition":"Eine seltene, syndromale Darmfehlbildung, die durch einzelne oder multiple glattwandige, oft röhrenförmige, zystische Läsionen gekennzeichnet ist, in denen gelegentlich ektopische Magenschleimhaut enthalten ist und die im Thorax (meist im hinteren Mediastinum und rechts der Mittellinie) und im Abdomen lokalisiert sind. Säuglinge präsentieren sich meist mit Atemnot und ältere Patienten mit Sodbrennen, Bauchschmerzen, Erbrechen und/oder Meläna. Wirbelanomalien in der unteren Halswirbelsäule mit ZNS-Beteiligung sind häufig vorhanden, und es wurde auch über Komplikationen wie Darmverschluss, Perforation und Invagination berichtet."},"es":{"name":"Duplicación entérica toraco abdominal","definition":"La duplicación entérica toracoabdominal es una malformación sindrómica intestinal poco frecuente caracterizada por una o múltiples lesiones quísticas, a menudo tubulares y con paredes lisas, que en ocasiones contienen mucosa gástrica ectópica. Pueden localizarse en el tórax (por lo general, en el mediastino posterior y a la derecha de la línea media) y en el abdomen. Habitualmente, los lactantes se manifiestan como dificultad respiratoria y los niños de mayor edad presentan acidez, dolor abdominal, vómitos y/o melena. También es frecuente la presencia de anomalías vertebrales en la parte inferior de la columna cervical, con afectación del SNC y se han descrito complicaciones como obstrucción, perforación e invaginación intestinales."},"it":{"name":"Duplicazione enterica toraco-addominale","definition":"La duplicazione enterica toraco-addominale è una malformazione rara e sindromica dell'intestino, caratterizzata dalla presenza di una o più lesioni cistiche, spesso tubulari, con pareti lisce, che talvolta contengono mucosa gastrica ectopica e si localizzano nel torace (di solito nel mediastino posteriore e a destra della linea mediana) e nell'addome. In genere i neonati presentano distress respiratorio, mentre i pazienti più grandi mostrano bruciore allo stomaco, dolore addominale, vomito e/o melena. Spesso sono presenti anomalie vertebrali nella porzione inferiore della colonna cervicale, con interessamento del SNC. Possono associarsi alcune complicanze come l'occlusione, la perforazione e l'intussuscezione intestinale."},"nl":{"name":"Thoraco-abdominale enterische duplicatie","definition":"Thoraco-abdominale enterische duplicatie is een zeldzame, syndromale intestinale malformatie en wordt gekarakteriseerd door één of meerdere, vaak tubulaire, cystische letsels met een gladde wand, die soms ectopisch maagslijmvlies bevatten en die gelokaliseerd zijn in de thorax (meestal in het achterste mediastinum en rechts van de middellijn) en in het abdomen. Zuigelingen vertonen doorgaans ademhalingsproblemen en oudere patiënten brandend maagzuur, buikpijn, braken en/of melena. Vertebrale anomalieën in het onderste deel van de cervicale wervelkolom, met betrokkenheid van het CZS, zijn regelmatig aanwezig, en complicaties zoals obstructie, perforatie en intussusceptie (invaginatie) van de darm werden ook reeds gerapporteerd."},"pt":{"name":"Duplicação entérica toraco-abdominal"},"pl":{"name":"Piersiowo-brzuszne zdwojenie jelit"},"cs":{"name":"Thorakoabdominální střevní duplikatura"},"uk":{"name":"Торако-абдомінальна ентеральна дуплікація","definition":"Thoraco-abdominal enteric duplication is a rare, syndromic intestinal malformation characterized by single or multiple smooth-walled, often tubular, cystic lesions, which on occasion contain ectopic gastric mucosa, located in the thorax (usually in the posterior mediastinum and to the right of the midline) and in the abdomen. Infants usually present with respiratory distress and older patients with heartburn, abdominal pain, vomiting and/or melena. Vertebral anomalies in the lower cervical spine, with CNS involvement, are frequently present and complications, such as bowel obstruction, perforation and intussusception, have also been reported."},"zh":{"name":"胸腹小肠重复畸形"},"tr":{"name":"Torako-abdominal enterik duplikasyon"}},"xrefs":[{"source":"ICD-10","code":"Q43.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1267632171"},{"source":"MONDO","code":"0015774","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518084","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5181","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":108969,"name":"Syndromic intestinal malformation","classifications":[147,156,182,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.4,"area":"Worldwide","status":"Validated","source":"34890978[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","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:0007477","label":"Abnormal dermatoglyphics","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001702","label":"Abnormal tricuspid valve morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100555","label":"Asymmetric growth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001651","label":"Dextrocardia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100563","label":"Diastomatomyelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100867","label":"Duodenal stenosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002566","label":"Intestinal malrotation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002435","label":"Meningocele","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000921","label":"Missing ribs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Very frequent (99-80%)","criteria":null}]}}