What are the other Names for this Condition? (Also known as/Synonyms)

• Enteric Thoracoabdominal Duplication

What is Thoraco-Abdominal Enteric Duplication? (Definition/Background Information)

• 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

(Source: Thoraco Abdominal Enteric Duplication; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Who gets Thoraco-Abdominal Enteric Duplication? (Age and Sex Distribution)

• Thoraco-Abdominal Enteric Duplication is a rare congenital disorder. The presentation of symptoms may occur in infancy
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Thoraco-Abdominal Enteric Duplication? (Predisposing Factors)

• Currently, no risk factors have been clearly identified for Thoraco-Abdominal Enteric Duplication

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Thoraco-Abdominal Enteric Duplication? (Etiology)

The cause of Thoraco-Abdominal Enteric Duplication is not known at the present time.

What are the Signs and Symptoms of Thoraco-Abdominal Enteric Duplication?

The signs and symptoms of Thoraco-Abdominal Enteric Duplication may include:

Very frequently present symptoms in 80-99% of the cases:

• Abnormal dermatoglyphics
• Abnormal tricuspid valve morphology
• Asymmetric growth
• Camptodactyly of finger
• Dextrocardia
• Diastomatomyelia
• Duodenal stenosis
• Hepatomegaly
• Intestinal malrotation
• Meningocele
• Missing ribs
• Respiratory insufficiency

(Source: Thoraco Abdominal Enteric Duplication; Genetic and Rare Disease Information Center (GARD) of National Center for Advancing Translational Science (NCATS), USA.)

How is Thoraco-Abdominal Enteric Duplication Diagnosed?

Thoraco-Abdominal Enteric Duplication is diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Laboratory tests
• Imaging studies
• Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Thoraco-Abdominal Enteric Duplication?

The complications of Thoraco-Abdominal Enteric Duplication may include:

• Malnutrition
• Weight loss
• Severe abdominal pain
• Abnormalities in heart function
• Meningitis
• Severe respiratory distress 
• Pneumonitis
• Poor quality of life

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Thoraco-Abdominal Enteric Duplication Treated?

The treatment for Thoraco-Abdominal Enteric Duplication may include surgical repair of structural deformities in an affected individual’s body, to offer relief from symptoms and improve his/her quality of life.

How can Thoraco-Abdominal Enteric Duplication be Prevented?

• The cause and risk factors for Thoraco-Abdominal Enteric Duplication are not known. Therefore, at the present time, no methods or guidelines are available for its prevention
• Active research is currently being performed to explore the possibilities for treatment and prevention of disorders such as Thoraco Abdominal Enteric Duplication
• Regular medical screening at periodic intervals with tests and physical examinations are recommended

What is the Prognosis of Thoraco-Abdominal Enteric Duplication? (Outcomes/Resolutions)

• The prognosis of Thoraco-Abdominal Enteric Duplication is dependent upon the severity of the signs and symptoms and associated complications, if any
• Individuals with mild conditions have better prognosis than those with severe symptoms and complications
• Those with complications that lead to respiratory distress and failure may succumb to the condition
• Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Thoraco-Abdominal Enteric Duplication:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/