The malformation usually develops from the third or fourth week of pregnancy. The symptoms therefore occur in fetuses and newborns.
Boys are slightly more frequently affected by esophageal atresia than girls. The distribution is approximately 60 to 40 percent. Overall, the incidence (frequency) of the disease is relatively high at 1:2500-4000.
Oesophageal atresia could be due to a genetic cause. This is indicated by several factors, e.g. a small but visible familial clustering. On the other hand, there are also individual cases without a family history of the disease, which do not allow any conclusions to be drawn about inheritance within the family.
The malformation is most likely to occur during the ontogenetic developmental phase, when the trachea separates from the oesophagus. In many cases, the fetus is unable to absorb amniotic fluid. As a result, an amniotic sac forms. This symptom is often associated with a missing stomach bladder and delayed growth of the child.
After birth, oesophageal atresia manifests itself in increased salivation. The newborn also finds it difficult to breathe, coughs more and suffers from shortness of breath. If you try to feed the child, the food enters the windpipe and cyanosis (blue coloration of the skin) occurs.
If the placement of a feeding tube through the mouth or nose fails due to resistance, oesophageal atresia is as good as proven.
According to Vogt, oesophageal atresia is divided into different types, which occur with varying frequency. The frequency varies from author to author.
- Type 1: Complete absence of the esophagus (aplasia). Frequency: less than 1 %.
- Type 2: Malformation of the esophagus without a fistula between the trachea and esophagus. Frequency: about 10 %.
- Type 3a: Fistula in the upper section, while the lower section ends in a blind sac. Frequency: less than 1 %.
- Type 3b: Fistula in the lower section, while the upper section ends in the blind sac. Frequency: about 80 %.
- Type 3c: Fistula formation in both sections. Frequency: about 5 %. In some classifications, a fourth type is also assumed, in which a fistula occurs without malformation.

Type 2-4 of esophageal atresia © Atrezia.jpg / Wikimedia Commons (License)
Esophageal atresia often occurs in conjunction with other malformations. Their correlation is summarized under the term VACTERL association. These are malformations of the following body segments:
- Spinal column (vertebra)
- Gastrointestinal tract (anal)
- Heart (cardiac)
- Oesophagus (tracheo-esophageal)
- Kidney (Renal)
- Extremities (Limbs)
A simultaneous malformation of these parts of the body increases the probability that esophageal atresia is also present.
If there is a swallowing disorder and the amniotic fluid intake of the fetus is prevented by a fistula, an amniotic fluid bubble forms. This can be detected using an ultrasound scan. However, too much amniotic fluid alone is not sufficient proof of an oesophageal atresia.
In combination with a missing stomach bladder, however, the symptoms clearly indicate a malformation of the esophagus. This is particularly the case if the child is smaller than would be normal at the respective stage of development as a result of complications during amniotic fluid intake.
If the condition does not become apparent before birth, further symptoms such as shortness of breath and salivation will occur (see symptoms). To confirm the diagnosis after birth, an X-ray examination of the upper body is carried out.
The malformation can be corrected with an operation, an end-to-end anastomosis. However, this is usually only performed once the child has been sufficiently stabilized. In emergency cases, however, an earlier operation may be necessary.
The procedure is initiated with an incision under the armpit. The two loose ends of the esophagus are then opened and joined together. Depending on the type of malformation, the connecting passage(fistula) between the esophagus and trachea is removed during suturing.
Following the operation, the child is fed by means of a stomach tube. After ten days, the surgical suture is checked by a doctor. If both the density and quality of the suture are OK, the child can then be fed by mouth. Further feeding via the gastric tube is no longer necessary.
In some cases, several operations are necessary, especially if the ends of the oesophagus are too far apart.
Conscientious aftercare is of great importance in the subsequent period. The child's hospital stay is only ended when it has reached a normal weight. It must also have become accustomed to a special diet plan.
Even after the child has left the clinic, regular check-ups are necessary. They help to minimize the risk of secondary complications and detect them early if necessary.
Possible complications include
- gastroesophageal reflux (backflow of stomach acid into the oesophagus)
- Tracheomalacia (slack trachea) and resulting pneumonia
- Narrowing of the esophageal suture
If the complications are detected early enough, it is possible to treat them with further surgical interventions and thus improve the child's quality of life in the long term. This makes it all the more important to keep the check-up appointments carefully.
The survival rate for esophageal atresia is around 90 percent.