Overview
Thoraco-abdominal enteric duplication is an extremely rare congenital malformation in which a segment of the gastrointestinal tract is duplicated, extending through both the thoracic (chest) and abdominal cavities. These duplications are cystic or tubular structures that share a common wall and blood supply with the adjacent normal bowel. They are lined by alimentary tract mucosa and may contain ectopic gastric or pancreatic tissue, which can lead to complications such as ulceration, bleeding, or perforation. The condition typically presents in the neonatal or infantile period, though some cases may be detected prenatally or remain asymptomatic until later in childhood. Key clinical features include respiratory distress, feeding difficulties, vomiting, abdominal distension, and a palpable mass in the chest or abdomen. The thoracic component may cause mediastinal compression, leading to cough, dyspnea, or recurrent respiratory infections. Abdominal symptoms may include intestinal obstruction or gastrointestinal bleeding. The duplication may communicate with the normal bowel lumen or exist as a closed structure. Diagnosis is established through imaging studies including prenatal ultrasound, postnatal CT scan, MRI, or contrast studies that delineate the extent of the duplication across both body cavities. Treatment is primarily surgical, involving complete excision of the duplicated segment when feasible. In cases where the duplication shares a significant blood supply with normal bowel, partial excision or mucosal stripping may be performed to preserve bowel viability. Prognosis is generally favorable with timely surgical intervention, though outcomes depend on the extent of the malformation and the presence of associated anomalies, which may include vertebral defects or other gastrointestinal malformations.
Clinical phenotype terms— hover any for plain English:
Sporadic
Usually appears on its own, not inherited from a parent
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Thoraco-abdominal enteric duplication.
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Specialists
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Thoraco-abdominal enteric duplication.
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Common questions about Thoraco-abdominal enteric duplication
What is Thoraco-abdominal enteric duplication?
Thoraco-abdominal enteric duplication is an extremely rare congenital malformation in which a segment of the gastrointestinal tract is duplicated, extending through both the thoracic (chest) and abdominal cavities. These duplications are cystic or tubular structures that share a common wall and blood supply with the adjacent normal bowel. They are lined by alimentary tract mucosa and may contain ectopic gastric or pancreatic tissue, which can lead to complications such as ulceration, bleeding, or perforation. The condition typically presents in the neonatal or infantile period, though some ca
How is Thoraco-abdominal enteric duplication inherited?
Thoraco-abdominal enteric duplication follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Thoraco-abdominal enteric duplication typically begin?
Typical onset of Thoraco-abdominal enteric duplication is neonatal. Age of onset can vary across affected individuals.