Birth Defects Respiratory

Birth defects, or congenital abnormalities, can affect any of the body’s systems, including the respiratory system. These structural defects occur during the course of fetal development and are present at birth.

Respiratory system defects affect breathing, and can present life-threatening complications at birth if appropriate respiratory therapy is not administered.

Understanding the Respiratory System

The respiratory system is used for breathing, and is responsible for oxygenating blood to be used by the body. The lungs take in air that is high in oxygen, and expel air that is high in carbon dioxide. The respiratory system is composed of the:

  • Nasal passages
  • Mouth
  • Larynx
  • Trachea
  • Lungs
  • Diaphragm.

Once air enters the respiratory system, it oxygenates blood from the heart. This oxygenated blood is then pumped to the body to supply oxygen to all the body’s structures.

Types of Respiratory System Defects

Birth defects can affect any of the respiratory system’s structures. Cystic adenomatoid malformation is a congenital defect of the lungs. Formation of cysts in the lung tissue impedes breathing function. This cystic tissue does not function like normal lung tissue, and is unable to take in oxygen properly. Other rare birth defects may also affect the lungs.

Other respiratory system structures can be subject to birth defects. In laryngomalacia, incomplete development of cartilage in the larynx (voice box) causes partial airway obstruction. Choanal atresia is a narrowing of the nasal airways that causes difficulty breathing through the nose.

Birth defects affecting the diaphragm, the primary muscle used to fill and empty the lungs, can affect breathing. The primary birth defect affecting the diaphragm is a diaphragmatic hernia, in which incomplete formation of the diaphragm allows the abdominal organs to protrude into the chest cavity. This can affect breathing by weakening the diaphragm. Abdominal organs in the chest cavity can also inhibit lung development. This condition is known as pulmonary hypoplasia.

Symptoms of Respiratory System Defects

Birth defects affecting the respiratory system can be life-threatening. The presence of these birth defects is suspected if the baby presents with:

  • Bluish skin tint (cyanosis)
  • Increased breathing rate
  • Labored breathing (including sounds such as grunting or wheezing).

Infants with birth defects of the respiratory system usually need immediate respiratory care. They may have to be placed on a ventilator to support their breathing. Surgical treatment may be warranted for many of these conditions, but not always. Your child’s doctors will advise you as to the best course of treatment for a specific condition.


About Kids Health. (n.d.). Lung problems. Retrieved on April 19, 2010, from: