thoraco-abdominal enteric duplication
Findings
No curated finding names thoraco-abdominal enteric duplication yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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 malena. 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.
Definition from the Mondo Disease Ontology (MONDO:0015774), read 2026-09-29. CC BY 4.0.
Features
12 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal dermatoglyphicsHPOHP:0007477
- Very frequent (80% to 99% of cases)
- Abnormal tricuspid valve morphologyHPOHP:0001702
- Very frequent (80% to 99% of cases)
- Asymmetric growthHPOHP:0100555
- Very frequent (80% to 99% of cases)
- Camptodactyly of fingerHPOHP:0100490
- Very frequent (80% to 99% of cases)
- DextrocardiaHPOHP:0001651
- Very frequent (80% to 99% of cases)
- DiastomatomyeliaHPOHP:0100563
- Very frequent (80% to 99% of cases)