Esophageal Atresia Symptoms & Causes

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Esophageal atresia (EA) is a birth defect in which part of your baby’s esophagus is missing. Instead of forming a tube between the mouth and the stomach, the esophagus grows in two separate segments that do not connect.

Children with esophageal atresia almost always have another birth defect called tracheoesophageal fistula, or TEF (a fistula is an abnormal connection). The esophagus and trachea should be two separate, unconnected tubes, but in TEF, they're connected.

There are four types of esophageal atresia:

  • Type A  
    • The upper and lower segments of the esophagus end in pouches, like dead-end streets that don’t connect.
    • TEF is not present.
  • Type B
    • The lower segment ends in a blind pouch.
    • TEF is present on the upper segment.
    • This type is very rare.
  • Type C
    • The upper segment ends in a blind pouch.
    • TEF is present on the lower segment.
    • This is the most common type.
  • Type D
    • TEF is present on both upper and lower segments.
    • This is the rarest form of EA/TEF.

How do babies with esophageal atresia eat?

Without a working esophagus, your baby may be unable to swallow or feed normally. Once esophageal atresia is diagnosed, she will probably be fed intravenously at the hospital until doctors perform surgery to repair her esophagus.

Is esophageal atresia common?

About one in 4,000 babies in the United States is born with esophageal atresia, making it the 25th most common birth defect.

Is esophageal atresia dangerous?

Without a working esophagus, it’s impossible to receive enough nutrition by mouth. Babies with esophageal atresia are also more prone to infections like pneumonia and conditions such as acid reflux. Luckily, esophageal atresia is most often correctable.

What causes esophageal atresia?

The exact cause of esophageal atresia is still unknown, but it appears to have some genetic components. Up to half of all babies born with esophageal atresia have one or more other birth defects, such as:

Esophageal atresia and tracheoesophageal fistula are also often found in babies born with VACTERL syndrome. This is a non-random collection of abnormalities that may also involve the spine, heart, lower digestive tract, kidneys and limbs. Not all babies born with VACTERL syndrome have abnormalities in all of these areas.

Long-gap esophageal atresia may also result from surgery to try to fix a milder case of esophageal atresia, or to repair a tracheoesophageal fistula.

What are the signs and symptoms of esophageal atresia?

The first signs of esophageal atresia are usually clearly seen very soon after birth. The most common are:

  • frothy white bubbles in your baby’s mouth
  • coughing or choking when feeding
  • vomiting
  • blue color of the skin, especially when your baby is feeding
  • difficulty breathing
  • very round, full abdomen

Make an Appointment

To make an appointment or speak with a member of our team, please call 617-355-3038.

International Patients

For families residing outside of the United States, please call Boston Children's International Health Services at +01-617-355-5209.

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