- Tracheoesophageal fistula (HP:0002575): An abnormal connection (fistula) between the esophagus and the trachea. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1199)
- Failure to thrive in infancy (HP:0001531). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1199)
- Vomiting (HP:0002013): Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1199)
- Dysphagia (HP:0002015): Difficulty in swallowing. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1199)
- Restrictive ventilatory defect (HP:0002091): A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1199)
- Recurrent respiratory infections (HP:0002205): An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1199)
- Gastrointestinal dysmotility (HP:0002579): Abnormal intestinal contractions, such as spasms and intestinal paralysis, related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1199)
- Excessive salivation (HP:0003781): Excessive production of saliva. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1199)
- Chronic pulmonary obstruction (HP:0006510): An anomaly that is characterized progressive airflow obstruction that is only partly reversible, inflammation in the airways, and systemic effects or comorbities. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1199)
- Feeding difficulties in infancy (HP:0008872): Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1199)
- Absence of stomach bubble on fetal sonography (HP:0010963): By the 14th week of gestation it is nearly always possible to visualized the fluid-filled fetal stomach bubble on prenatal sonography. This term refers to the absence of a normal fetal stomach bubble on fetal ultrasonography performed at around 16 to 20 weeks' gestation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1199)
- Bronchitis (HP:0012387): Inflammation of the large airways in the lung including any part of the bronchi from the primary bronchi to the tertiary bronchi. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1199)
- Oral aversion (HP:0012523): Reluctance or refusal of a child to be breastfed or eat, manifested as gagging, vomiting, turning head away from food, or avoidance of sensation in or around the mouth (i.e. toothbrushing or face-washing). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1199)
- Immunologic hypersensitivity (HP:0100326): Immunological states where the immune system produces harmful responses upon reexposure to sensitizing antigens. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1199)
- Esophagitis (HP:0100633): Inflammation of the esophagus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1199)
- Abnormality of the urinary system (HP:0000079): An abnormality of the urinary system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1199)
- Abnormality of the genitourinary system (HP:0000119): The presence of any abnormality of the genitourinary system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1199)
- 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:1199)
- Pallor (HP:0000980): Abnormally pale skin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1199)
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1199)
- Small for gestational age (HP:0001518): Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1199)
- Polyhydramnios (HP:0001561): The presence of excess amniotic fluid in the uterus during pregnancy. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1199)
- Vocal cord paresis (HP:0001604): Decreased strength of the vocal folds. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1199)
- Subglottic stenosis (HP:0001607). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1199)
- 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:1199)
- Pyloric stenosis (HP:0002021): Pyloric stenosis, also known as infantile hypertrophic pyloric stenosis, is an uncommon condition in infants characterized by abnormal thickening of the pylorus muscles in the stomach leading to gastric outlet obstruction. Clinically infants are well at birth. Then, at 3 to 6 weeks of age, the infants present with projectile vomiting, potentially leading to dehydration and weight loss. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1199)
- Respiratory distress (HP:0002098): Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1199)
- Aspiration (HP:0002835): Inspiration of a foreign object into the airway. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1199)
- Abnormal vertebral morphology (HP:0003468): An abnormality of one or more of the vertebrae. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1199)
- Episodic respiratory distress (HP:0004885). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1199)
- Laryngotracheomalacia (HP:0008755). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1199)
- Abnormal respiratory system morphology (HP:0012252): A structural anomaly of the respiratory system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1199)
- Abnormal gastrointestinal tract morphology (HP:0012718): Abnormal structure of the gastrointestinal tract. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1199)
- Anorectal anomaly (HP:0012732): An abnormality of the anus or rectum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1199)
- Clinodactyly (HP:0030084): An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1199)
- Abnormal cardiovascular system morphology (HP:0030680): Any structural anomaly of the heart and blood vessels. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1199)
- Abnormality of limbs (HP:0040064). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1199)
- Renal agenesis (HP:0000104): Agenesis, that is, failure of the kidney to develop during embryogenesis and development. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1199)
- Cleft palate (HP:0000175): Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1199)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1199)
- Choanal atresia (HP:0000453): Absence or abnormal closure of the choana (the posterior nasal aperture). Most embryologists believe that posterior choanal atresia results from a failure of rupture between the 35th and 38th day of fetal life of the partition which separates the bucconasal or buccopharyngeal membranes. The resultant choanal atresia may be unilateral or bilateral, bony or membranous, complete or incomplete. In over 90 per cent of cases the obstruction is bony, while in the remainder it is membranous. The bony type of atresia is commonly located 1-2 mm. anterior to the posterior edge of the hard palate, and the osseous septum varies in thickness from 1 to 10 mm. In the membranous form of choanal atresia the obstruction usually occurs further posteriorly. In approximately one third of cases the atresia is bilateral. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1199)
- Coloboma (HP:0000589): A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1199)
- Abnormality of the ear (HP:0000598): An abnormality of the ear. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1199)
- Abnormal external genitalia morphology (HP:0000811): A structural anomaly of the external genitalia. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1199)
- Hypotonia (HP:0001252): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1199)
- Hypertonia (HP:0001276): A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1199)
- Omphalocele (HP:0001539): A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1199)
- 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:1199)
- 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:1199)
- Coarctation of aorta (HP:0001680): Coarctation of the aorta is a narrowing or constriction of a segment of the aorta. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1199)
- Abnormal facial shape (HP:0001999): An abnormal morphology (form) of the face or its components. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1199)
- Pulmonary hypoplasia (HP:0002089). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1199)
- Duodenal atresia (HP:0002247): A developmental defect resulting in complete obliteration of the duodenal lumen, that is, an abnormal closure of the duodenum. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1199)
- Intestinal malrotation (HP:0002566): An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1199)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1199)
- Gastrointestinal carcinoma (HP:0002672). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1199)
- Laryngeal cleft (HP:0008751): Presence of a gap in the posterior laryngotracheal wall with a continuity between the larynx and the esophagus. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1199)
- Maternal diabetes (HP:0009800): Maternal diabetes can either be a gestational, mostly type 2 diabetes, or a type 1 diabetes. Essential is the resulting maternal hyperglycemia as a non-specific teratogen, imposing the same risk of congenital malformations to pregnant women with both type 1 and type2 diabetes. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1199)
- Barrett esophagus (HP:0100580): An abnormal change (metaplasia) in the cells of the inferior portion of the esophagus. The normal squamous epithelium lining of the esophagus is replaced by metaplastic columnar epithelium. Columnar epithelium refers to a cell type that is typically found in more distal parts of the gastrointestinal system. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1199)
- Cleft lip (HP:0410030): A gap in the lip or lips. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1199)
These phenotypes are associated with the disease Esophageal atresia (ORPHA:1199).