- Tracheomalacia (HP:0002779). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:95430)
- Anomalous tracheal cartilage (HP:0004468): An abnormality of the C-shaped rings of hyaline cartilage, normally 16 to 20 in number, that occupy the anterior two-thirds of the circumference of the trachea (the posterior portion of the ring is completed by fibrous and smooth muscle tissue). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:95430)
- Laryngomalacia (HP:0001601): Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:95430)
- Respiratory insufficiency (HP:0002093). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:95430)
- Recurrent upper respiratory tract infections (HP:0002788): An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:95430)
- Stridor (HP:0010307): Stridor is a high pitched sound resulting from turbulent air flow in the upper airway. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:95430)
- Cough (HP:0012735): A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:95430)
- Wheezing (HP:0030828): A high-pitched whistling sound associated with labored breathing. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:95430)
- Decreased peak expiratory flow (HP:0032355): A reduction in the maximum expiratory flow per minute, which can be used to measure how fast a subject can exhale as well as to judge the strength of the expiratory muscles and the condition of the large airways. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:95430)
- Cyanosis (HP:0000961): Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:95430)
- Cutis laxa (HP:0000973): Wrinkled, redundant, inelastic and sagging skin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:95430)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:95430)
- Hoarse voice (HP:0001609): Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:95430)
- Premature birth (HP:0001622): The birth of a baby of less than 37 weeks of gestational age. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:95430)
- Abnormal heart morphology (HP:0001627): Any structural anomaly of the heart. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:95430)
- Loss of voice (HP:0001686). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:95430)
- Gastroesophageal reflux (HP:0002020): A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:95430)
- Esophageal atresia (HP:0002032): A developmental defect resulting in complete obliteration of the lumen of the esophagus such that the esophagus ends in a blind pouch rather than connecting to the stomach. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:95430)
- Pneumonia (HP:0002090): Inflammation of any part of the lung parenchyma. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:95430)
- Dyspnea (HP:0002094): Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:95430)
- Pneumothorax (HP:0002107): Accumulation of air in the pleural cavity leading to a partially or completely collapsed lung. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:95430)
- Tracheoesophageal fistula (HP:0002575): An abnormal connection (fistula) between the esophagus and the trachea. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:95430)
- Neonatal respiratory distress (HP:0002643): Respiratory difficulty as newborn. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:95430)
- Feeding difficulties (HP:0011968): Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:95430)
- Neurodevelopmental delay (HP:0012758): Neurodevelopmental delay (NDD) refers to delays in the maturation of the brain and central nervous system; infants and young children with NDD may experience delays in the development of one or more skills including gross motor abilities, fine-motor coordination, language abilities and ability to solve increasingly complex problems. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:95430)
- Intercostal retractions (HP:0030864): A pulling inward of the soft tissues between the ribs upon inhalation. This is a sign of increased use of the chest muscles for breathing and is a manifestation of respiratory distress. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:95430)
- Abnormal pulmonary artery morphology (HP:0030966): An abnormality of the structure of the pulmonary artery. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:95430)
- Productive cough (HP:0031245): A cough that produces phlegm or mucus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:95430)
- Parenchymal consolidation (HP:0032177): Consolidation refers to an exudate or other product of disease that replaces alveolar air, rendering the lung solid (as in infective pneumonia). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:95430)
- Ventricular septal defect (HP:0001629): A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:95430)
- Atrial septal defect (HP:0001631): Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:95430)
- Tetralogy of Fallot (HP:0001636): A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:95430)
- Cardiomegaly (HP:0001640): Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:95430)
- Patent ductus arteriosus (HP:0001643): In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:95430)
- Single ventricle (HP:0001750): The presence of only one working lower chamber in the heart, usually with a virtual absence of the ventricular septum and usually present in conjunction with double inlet left or right ventricle. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:95430)
- Pulmonary hypoplasia (HP:0002089). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:95430)
- Pulmonary arterial hypertension (HP:0002092): Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:95430)
- Emphysema (HP:0002097). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:95430)
- Apnea (HP:0002104): Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:95430)
- Bronchiectasis (HP:0002110): Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:95430)
- Bronchomalacia (HP:0002780): Weakness or softness of the cartilage in the walls of the bronchial tubes. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:95430)
- Tracheobronchomalacia (HP:0002786): Weakness of the cartilage in the trachea and the bronchi, resulting in a floppy (non-rigid) airway. Affected persons may have difficulties to maintain patency of the airways. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:95430)
- Partial anomalous pulmonary venous return (HP:0010773): A form of anomalous pulmonary venous return in which not all pulmonary veins drain abnormally. Partial anomalous pulmonary venous return frequently involves one or both of the veins from one lung. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:95430)
- Double aortic arch (HP:0011590): A conenital abnormality of the aortic arch in which the two embryonic aortc arches form a vascular ring that surrounds the trachea or esophagus and then join to form the descending aorta. Double aortic arch can cause symptoms because of compression of the esophagus (dysphagia, cyanosis while eating) or trachea (stridor). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:95430)
- Right aortic arch (HP:0012020): Aorta descends on right instead of on the left. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:95430)
These phenotypes are associated with the disease Congenital tracheomalacia (ORPHA:95430).