Thoraco-abdominal enteric duplication

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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:

Missing ribsHP:0000921DextrocardiaHP:0001651Abnormal tricuspid valve morphologyHP:0001702MeningoceleHP:0002435Asymmetric growthHP:0100555DiastomatomyeliaHP:0100563Duodenal stenosisHP:0100867
Inheritance

Sporadic

Usually appears on its own, not inherited from a parent

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Thoraco-abdominal enteric duplication.

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No actively recruiting trials found for Thoraco-abdominal enteric duplication at this time.

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No specialists are currently listed for Thoraco-abdominal enteric duplication.

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Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA 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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Community

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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.