Congenital tracheomalacia is when an infant is born with weak cartilage around the windpipe (trachea) that makes it difficult to keep the airway open. The trachea can collapse when breathing out. Symptoms vary frommild to severe and may include noisy breathing (stridor), shortness of breath, difficulty breathing, and bluish skin (cyanotic spells). Symptoms typically worsen during periods of activity. Tracheomalacia can occur on its own or along with other airway problems. It can also occur with congenital abnormalities that affect other parts of the body. Tracheomalacia often resolves on its own by the second year of life.

Treatment of symptoms may include humidified air, chest physical therapy, or continuous positive airway pressure (CPAP) for respiratory distress. Severe tracheomalacia may need to be treated with surgery.

Signs and symptoms of tracheomalacia vary depending on where the narrowing occurs and if it is mild or severe. If a large area is involved the symptoms tend to begin earlier. The child may have noisy, rattling breathing that changes with body position and improves during sleep. Breathing problems can get worse with coughing, crying, and feeding.

Also, children with tracheomalacia tend to have more frequent upper respiratory infections that can also make breathing problems worse.

Congential tracheomalacia can occur alone, but often occurs along with other birth defects of the airway, such as laryngomalacia, bronchomalacia, largelaryngeal clefts, tracheo-esophageal fistulae (TEF), or esophageal atresia (EA). These airway problems can occur alone or in association with a variety of conditions/syndromes such as craniofacial disorders, chromosome anomalies, mucopolysaccharidase deficiency, and heritable connective tissue disorders.

Diagnosis typically includes reviewing the infant's medical history and performing a bronchoscopy to view the airway. Additional tests that may be considered include CT scan, dynamic MRI, or fluoroscopy.

The long-term outlook of congenital tracheomalacia is good in children with no associated problems. These children tend to improve by age 2. Children who have tracheomalacia in combination with other malformations tend to have symptoms that last into later childhood. Studies suggest that some people with tracheomalacia have exercise intolerance as adults.

Possible serious complications of tracheomalacia include complete airway blockage, repeat infection, respiratory failure, and failure to thrive. Treatments to prevent these complications include positive pressure ventilatory support (cPAP) or surgery (e.g., aortopexy, tracheopexy, tracheal stent). Surgery is reserved for treatment of very serious cases.