PSMA6 and thanatophoric dysplasia: Major risk factors for suspected TD include: (1) chronic respiratory diseases, particularly alpha-1 antitrypsin deficiency, which increase tracheal wall pressure (23, 24); (2) prior surgical interventions such as tracheoesophageal fistula repair or tracheotomy (22, 25); (3) nonspecific symptoms including chronic cough, dyspnea, hoarseness, or dysphagia (3, 26).