Q30-Q34: Congenital malformations of the respiratory system

Q32: Congenital malformations of trachea and bronchus

The group of conditions known as congenital malformations of the trachea and bronchus involves abnormalities in the airways that are present from birth. These structural defects can occur anywhere in the trachea (the windpipe) or bronchus (the air passages into the lungs), and may include narrowing, enlargement, or misplacement of these airways. Causes are largely genetic, often relating to mutations that affect the normal development of the respiratory system in the fetus. Symptoms can vary based on the severity and location of the defect but usually involve breathing difficulties. For example, a baby may struggle to breathe, have a high-pitched breathing sound, or turn blue due to lack of oxygen. These symptoms are often detected soon after birth or during infant years. The course and progression of these conditions depend greatly on their severity, with some causing life-threatening problems while others may have only minor impact on overall health.