What is esophageal atresia?

Esophageal atresia is a birth defect in which the esophagus (the tube that carries food from the mouth to the stomach) forms in two separate parts that do not connect to one another. Typically, the esophagus is one long tube that connects the mouth, throat and stomach. Esophageal atresia prevents food and important bodily fluids (such as saliva) from reaching the stomach. This can lead to choking and serious breathing problems.  

In people who have esophageal atresia, it is common to also have a tracheoesophageal fistula. This is when part of the esophagus mistakenly forms a connection with the trachea (windpipe). This can also lead to breathing problems and infections.

It is common for babies with esophageal atresia to be born prematurely.

What are the different types of esophageal atresia?

There are 4 types of esophageal atresia:

  • Type A: The upper and lower portions are closed at each end and do not connect. There is no tracheoesophageal atresia. Type A is also called long-gap esophageal atresia or pure esophageal atresia.
  • Type B: The upper portion of the esophagus connects to the trachea and the lower portion is closed. 
  • Type C: This is the most common type of esophageal atresia, affecting about 8 out every 10 babies born with esophageal atresia. The lower portion of the esophagus connects to the trachea and the upper portion is closed.
  • Type D: Both the upper and lower portions of the esophagus connect to the trachea.

What causes esophageal atresia?

Doctors do not know the exact cause of esophageal atresia. They do know that the condition occurs sometime during the baby’s development. During pregnancy, the baby’s esophagus and trachea form as one single tube. Between weeks 4-8 of pregnancy, a wall forms that breaks the esophagus and trachea into two parts. Esophageal atresia occurs when this wall does not form properly.

Esophageal atresia may also be caused by genetic mutations (changes in DNA, or genetic material), which stop the esophagus from growing properly.

Some babies are born with esophageal atresia along with other health conditions that affect the gastrointestinal system (digestive system), urogenital tract (genitals and reproductive system), brain or heart.

What are the symptoms of esophageal atresia?

Symptoms of esophageal atresia are usually noticeable shortly after birth. Symptoms can include:

  • Drooling
  • Difficulty breathing
  • Vomiting
  • Coughing or choking during feeding
  • Cyanosis (skin that has a blue appearance) during feeding
  • Full, round abdomen (belly area)