{"Name":"Esophageal atresia/tracheoesophageal fistula","DiseaseID__c":"GARD:0006381","id":6381,"encodedName":"esophageal-atresiatracheoesophageal-fistula","IsDeleted":false,"Disease_Name_Full__c":"Esophageal atresia/tracheoesophageal fistula","Xref_IDs__c":"95435007; C0040588; C35080; C531835; DOID:0080171; MEDGEN:21228; MONDO:0008586; OMIM:189960; ORPHA:1199","USA_Estimate__c":"200,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"800,000 to 5,000,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0008586","Disease_Description__c":"A rare congenital malformation characterized by an interruption in the continuity of the esophagus, with or without persistent communication with the trachea. The clinical presentation varies according to the anatomy, and can lead to the inability to swallow or, in the most severe cases, respiratory distress.","GARD_Name__c":"Esophageal atresia/tracheoesophageal fistula","GARD_Synonym__c":"abnormal connection between trachea and esophagus; abnormal connection between trachea and oesophagus; esophageal atresia; esophageal atresia and/or tracheoesophageal fistula; tof - tracheoesophageal fistula; tracheoesophageal fistula; tracheoesophageal fistula with or without esohageal atresia; tracheoesophageal fistula with or without esophageal atresia","Curated_Disease_Description_Source__c":"MONDO:0008586","Curated_Disease_Description__c":"Esophageal atresia/tracheoesophageal fistula (EA/TEF) is a condition resulting from abnormal development before birth of the tube that carries food from the mouth to the stomach (the esophagus). During early development, the esophagus and windpipe (trachea) begin as a single tube that normally divides into the two adjacent passages between four and eight weeks after conception. If this separation does not occur properly, EA/TEF is the result. In esophageal atresia (EA), the upper esophagus does not connect (atresia) to the lower esophagus and stomach. Almost 90 percent of babies born with esophageal atresia also have a tracheoesophageal fistula (TEF), in which the esophagus and the trachea are abnormally connected, allowing fluids from the esophagus to get into the airways and interfere with breathing. A small number of infants have only one of these abnormalities. There are several types of EA/TEF, classified by the location of the malformation and the structures that are affected. In more than 80 percent of cases, the lower section of the malformed esophagus is connected to the trachea (EA with a distal TEF). Other possible configurations include having the upper section of the malformed esophagus connected to the trachea (EA with a proximal TEF), connections to the trachea from both the upper and lower sections of the malformed esophagus (EA with proximal and distal TEF), an esophagus that is malformed but does not connect to the trachea (isolated EA), and a connection to the trachea from an otherwise normal esophagus (H-type TEF with no EA). While EA/TEF arises during fetal development, it generally becomes apparent shortly after birth. Saliva, liquids fed to the infant, or digestive fluids may enter the windpipe through the tracheoesophageal fistula, leading to coughing, respiratory distress, and a bluish appearance of the skin or lips (cyanosis).  Esophageal atresia blocks liquids fed to the infant from entering the stomach, so they are spit back up, sometimes along with fluids from the respiratory tract. EA/TEF is a life-threatening condition; affected babies generally require surgery to correct the malformation in order to allow feeding and prevent lung damage from repeated exposure to esophageal fluids. EA/TEF occurs alone (isolated EA/TEF) in about 40 percent of affected individuals. In other cases it occurs with other birth defects or as part of a genetic syndrome (non-isolated or syndromic EA/TEF).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:1199","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008586","ORPHANET_ID__c":"ORPHA:1199","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Atresia esofágica","Spanish_Description_Source__c":"ORPHA:1199","Spanish_Description__c":"Es una malformación congénita poco frecuente caracterizada por una interrupción en la continuidad del esófago, con o sin comunicación persistente con la tráquea. La presentación clínica varía en función de la anatomía y puede conducir desde incapacidad para tragar hasta, en los casos más graves, a distrés respiratorio.","Spanish_Disease_Name__c":"atresia esofágica","Spanish_GARD_Synonym__c":"ae/fte; atresia de esófago; atresia esofágica con o sin fístula traqueoesofágica; atresia esofágica congénita","Category_Linearization__c":"ORPHA:93890","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Esophageal atresia/tracheoesophageal fistula (EA/TEF) is a condition resulting from abnormal development before birth of the tube that carries food from the mouth to the stomach (the esophagus). During early development, the esophagus and windpipe (trachea) begin as a single tube that normally divides into the two adjacent passages between four and eight weeks after conception. If this separation does not occur properly, EA/TEF is the result. In esophageal atresia (EA), the upper esophagus does not connect (atresia) to the lower esophagus and stomach. Almost 90 percent of babies born with esophageal atresia also have a tracheoesophageal fistula (TEF), in which the esophagus and the trachea are abnormally connected, allowing fluids from the esophagus to get into the airways and interfere with breathing. A small number of infants have only one of these abnormalities. There are several types of EA/TEF, classified by the location of the malformation and the structures that are affected. In more than 80 percent of cases, the lower section of the malformed esophagus is connected to the trachea (EA with a distal TEF). Other possible configurations include having the upper section of the malformed esophagus connected to the trachea (EA with a proximal TEF), connections to the trachea from both the upper and lower sections of the malformed esophagus (EA with proximal and distal TEF), an esophagus that is malformed but does not connect to the trachea (isolated EA), and a connection to the trachea from an otherwise normal esophagus (H-type TEF with no EA). While EA/TEF arises during fetal development, it generally becomes apparent shortly after birth. Saliva, liquids fed to the infant, or digestive fluids may enter the windpipe through the tracheoesophageal fistula, leading to coughing, respiratory distress, and a bluish appearance of the skin or lips (cyanosis).  Esophageal atresia blocks liquids fed to the infant from entering the stomach, so they are spit back up, sometimes along with fluids from the respiratory tract. EA/TEF is a life-threatening condition; affected babies generally require surgery to correct the malformation in order to allow feeding and prevent lung damage from repeated exposure to esophageal fluids. EA/TEF occurs alone (isolated EA/TEF) in about 40 percent of affected individuals. In other cases it occurs with other birth defects or as part of a genetic syndrome (non-isolated or syndromic EA/TEF).","Curated_Disease_Description_Source__c":"MONDO:0008586","GARD_Synonym__c":"abnormal connection between trachea and esophagus; abnormal connection between trachea and oesophagus; esophageal atresia; esophageal atresia and/or tracheoesophageal fistula; tof - tracheoesophageal fistula; tracheoesophageal fistula; tracheoesophageal fistula with or without esohageal atresia; tracheoesophageal fistula with or without esophageal atresia","Name":"Esophageal atresia/tracheoesophageal fistula","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Tracheo-Oesophageal Fistula Support","Website__c":"https://www.tofs.org.uk"},{"Account_Name__c":"The Federation of Esophageal Atresia and Tracheo-Esophageal Fistula Support Groups","Website__c":"https://www.we-are-eat.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal diseases"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:1199"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK5192","Xref__c":"NBK5192"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=21228","Source__c":"C0040588","Xref__c":"MEDGEN:21228"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0040588","Source__c":"C0040588","Xref__c":"C0040588"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080171","Source__c":"MONDO:0008586","Xref__c":"DOID:0080171"},{"URL__c":"https://www.omim.org/entry/189960","Source__c":"MONDO:0008586; ORPHA:1199","Xref__c":"OMIM:189960"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C531835","Source__c":"MONDO:0008586","Xref__c":"C531835"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=95435007","Source__c":"C0040588; MONDO:0008586","Xref__c":"95435007"},{"URL__c":"https://www.orpha.net/en/disease/detail/1199","Source__c":"C0040588; MONDO:0008586","Xref__c":"ORPHA:1199"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C014138","Source__c":"C0040588","Xref__c":"D014138"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008586","Source__c":"GARD:0006381","Xref__c":"MONDO:0008586"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0002575","Source__c":"C0040588","Xref__c":"HP:0002575"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C35080","Source__c":"C0040588","Xref__c":"C35080"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1199","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of an abnormal lateral curvature of the spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002650","HPO_Name__c":"Scoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1199","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal connection (fistula) between the esophagus and the trachea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002575","HPO_Name__c":"Tracheoesophageal fistula","Feature_System__c":"Respiratory system; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1199","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008872","HPO_Name__c":"Feeding difficulties in infancy","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1199","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inflammation of the esophagus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100633","HPO_Synonym__c":"Inflammation of the esophagus; Oesophagitis","HPO_Name__c":"Esophagitis","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1199","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"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).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012523","HPO_Name__c":"Oral aversion","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1199","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001636","HPO_Synonym__c":"Tetrology of fallot","HPO_Name__c":"Tetralogy of Fallot","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1199","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002089","HPO_Synonym__c":"Hypoplastic lung; Hypoplastic lungs; Lung hypoplasia; Poorly developed lungs; Small lung; Underdeveloped lung","HPO_Name__c":"Pulmonary hypoplasia","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1199","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002098","HPO_Synonym__c":"Breathing difficulties; Labored breathing; Respiratory difficulties","HPO_Name__c":"Respiratory distress","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1199","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Presence of a gap in the posterior laryngotracheal wall with a continuity between the larynx and the esophagus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008751","HPO_Synonym__c":"Laryngotracheal cleft; Laryngotracheoesophageal cleft i","HPO_Name__c":"Laryngeal cleft","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1199","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A deficiency or slowing down of growth pre- and postnatally.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001510","HPO_Synonym__c":"Delayed growth; Growth deficiency; Growth delay; Growth failure; Growth retardation; Poor growth; Retarded growth","HPO_Name__c":"Growth delay","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1199","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002013","HPO_Synonym__c":"Emesis; Throwing up; Vomiting","HPO_Name__c":"Vomiting","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1199","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002020","HPO_Synonym__c":"Acid reflux; Acid reflux disease; Gastro-esophageal reflux; Gastroesophageal reflux disease; GERD; GORD; Heartburn","HPO_Name__c":"Gastroesophageal reflux","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1199","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002091","HPO_Synonym__c":"Restrictive deficit on pulmonary function testing; Restrictive deficit on pulmonary function tests; Restrictive respiratory disease; Restrictive respiratory insufficiency; Restrictive respiratory syndrome; Spirometric restriction; Stiff lung or chest wall causing decreased lung volume","HPO_Name__c":"Restrictive ventilatory defect","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Procedure_PFT"}},{"Provided_By__c":"ORPHA:1199","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"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).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000175","HPO_Synonym__c":"Cleft hard and soft palate; Cleft of hard and soft palate; Cleft of palate; Cleft palate; Cleft roof of mouth; Palatoschisis; Uranostaphyloschisis","HPO_Name__c":"Cleft palate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1199","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A developmental defect resulting in complete obliteration of the duodenal lumen, that is, an abnormal closure of the duodenum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002247","HPO_Synonym__c":"Absence or narrowing of first part of small bowel","HPO_Name__c":"Duodenal atresia","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1199","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001539","HPO_Synonym__c":"Exomphalos; Omphalocoele","HPO_Name__c":"Omphalocele","Feature_System__c":"Musculoskeletal System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1199","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002021","HPO_Synonym__c":"Infantile hypertrophic pyloric stenosis; Pylorus stenosis","HPO_Name__c":"Pyloric stenosis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1199","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002579","HPO_Synonym__c":"GI dysmotility","HPO_Name__c":"Gastrointestinal dysmotility","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1199","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030084","HPO_Synonym__c":"Permanent curving of the finger","HPO_Name__c":"Clinodactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1199","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010963","HPO_Synonym__c":"Absent stomach bubble; Non-visualisation of the fetal stomach","HPO_Name__c":"Absence of stomach bubble on fetal sonography","HPO_Feature_Type__c":"Imaging_Ultrasound_Fetal"}},{"Provided_By__c":"ORPHA:1199","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the urinary system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000079","HPO_Synonym__c":"Urinary tract abnormalities; Urinary tract abnormality; Urinary tract anomalies","HPO_Name__c":"Abnormality of the urinary system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1199","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inflammation of the large airways in the lung including any part of the bronchi from the primary bronchi to the tertiary bronchi.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012387","HPO_Name__c":"Bronchitis","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1199","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal structure of the gastrointestinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012718","HPO_Synonym__c":"Abnormal shape of the digestive system; Morphological abnormality of the gastrointestinal tract; Morphological abnormality of the GI tract; Morphological anomaly of the digestive system","HPO_Name__c":"Abnormal gastrointestinal tract morphology","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1199","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally pale skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000980","HPO_Name__c":"Pallor","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1199","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001607","HPO_Name__c":"Subglottic stenosis","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1199","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Coarctation of the aorta is a narrowing or constriction of a segment of the aorta.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001680","HPO_Synonym__c":"Aortic coarctation; Coarctation of the aorta; Narrowing of aorta; Narrowing of the aorta","HPO_Name__c":"Coarctation of aorta","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1199","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040064","HPO_Synonym__c":"Abnormal limbs; Abnormality of limbs; Limb anomaly","HPO_Name__c":"Abnormality of limbs","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1199","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000453","HPO_Synonym__c":"Blockage of the rear opening of the nasal cavity","HPO_Name__c":"Choanal atresia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1199","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Excessive production of saliva.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003781","HPO_Synonym__c":"Excessive production of saliva; Excessive salivation; Hypersalivation; Mouth watering; Oversalivation; Ptyalism; Watery mouth","HPO_Name__c":"Excessive salivation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1199","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A decreased magnitude of the sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000365","HPO_Synonym__c":"Deafness; Hearing defect; Hearing impairment; Hypacusis","HPO_Name__c":"Hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1199","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001276","HPO_Synonym__c":"Hypertonicity; Increased muscle tone","HPO_Name__c":"Hypertonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1199","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000961","HPO_Synonym__c":"Blue discoloration of the skin","HPO_Name__c":"Cyanosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1199","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000589","HPO_Synonym__c":"Notched pupil; Ocular coloboma; Ocular colobomas","HPO_Name__c":"Coloboma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1199","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002566","HPO_Synonym__c":"Malrotation","HPO_Name__c":"Intestinal malrotation","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1199","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of excess amniotic fluid in the uterus during pregnancy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001561","HPO_Synonym__c":"High levels of amniotic fluid; Hydramnios","HPO_Name__c":"Polyhydramnios","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1199","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Agenesis, that is, failure of the kidney to develop during embryogenesis and development.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000104","HPO_Synonym__c":"Absent kidney; Missing kidney; Renal aplasia","HPO_Name__c":"Renal agenesis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1199","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Decreased strength of the vocal folds.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001604","HPO_Synonym__c":"Hoarse voice due to vocal cord paresis; Vocal cord paresis in severe cases; Weakness of the vocal cords","HPO_Name__c":"Vocal cord paresis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1199","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002672","HPO_Synonym__c":"GI carcinoma","HPO_Name__c":"Gastrointestinal carcinoma","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1199","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Difficulty in swallowing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002015","HPO_Synonym__c":"Difficulty swallowing; Poor swallowing; Swallowing difficulties; Swallowing difficulty","HPO_Name__c":"Dysphagia","Feature_System__c":"Nervous System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1199","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008755","HPO_Name__c":"Laryngotracheomalacia","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1199","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Immunological states where the immune system produces harmful responses upon reexposure to sensitizing antigens.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100326","HPO_Name__c":"Immunologic hypersensitivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1199","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004885","HPO_Synonym__c":"Episodic difficulty breathing; respiratory distress, episodic","HPO_Name__c":"Episodic respiratory distress","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1199","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001252","HPO_Synonym__c":"Low muscle tone; Low or weak muscle tone; Muscle hypotonia; Muscular hypotonia","HPO_Name__c":"Hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1199","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of any abnormality of the genitourinary system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000119","HPO_Synonym__c":"Abnormality of the GU system; Genitourinary abnormality; Genitourinary tract anomalies; Genitourinary tract malformation; Urogenital abnormalities; Urogenital anomalies","HPO_Name__c":"Abnormality of the genitourinary system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1199","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A gap in the lip or lips.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0410030","HPO_Synonym__c":"Cleft lip; Cleft of the lip","HPO_Name__c":"Cleft lip","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1199","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An abnormal morphology (form) of the face or its components.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001999","HPO_Synonym__c":"Abnormal facial shape; Abnormal morphology of the face; Distinctive facies; Dysmorphic facial features; Dysmorphic facies; Facial dysmorphism; Unusual facial appearance; Unusual facies","HPO_Name__c":"Abnormal facial shape","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1199","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A structural anomaly of the external genitalia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000811","HPO_Synonym__c":"Abnormal external genitalia","HPO_Name__c":"Abnormal external genitalia morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1199","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the anus or rectum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012732","HPO_Name__c":"Anorectal anomaly","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1199","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100580","HPO_Synonym__c":"Barret syndrome; Barrett's esophagus; Endobrachyesophagus","HPO_Name__c":"Barrett esophagus","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1199","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002205","HPO_Synonym__c":"Frequent respiratory infections; Multiple respiratory infections; Recurrent respiratory infections; respiratory infections, recurrent; Susceptibility to respiratory infections","HPO_Name__c":"Recurrent respiratory infections","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1199","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inspiration of a foreign object into the airway.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002835","HPO_Name__c":"Aspiration","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1199","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of one or more of the vertebrae.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003468","HPO_Synonym__c":"Abnormal vertebrae; Abnormality of the vertebrae; Vertebral anomalies","HPO_Name__c":"Abnormal vertebral morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1199","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A structural anomaly of the respiratory system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012252","HPO_Name__c":"Abnormal respiratory system morphology","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1199","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001518","HPO_Synonym__c":"Birth weight less than 10th percentile; Low birth weight; Small for gestational age","HPO_Name__c":"Small for gestational age","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1199","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An abnormality of the ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000598","HPO_Synonym__c":"Abnormality of the ear; Ear anomaly","HPO_Name__c":"Abnormality of the ear","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1199","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An anomaly that is characterized progressive airflow obstruction that is only partly reversible, inflammation in the airways, and systemic effects or comorbities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006510","HPO_Synonym__c":"Chronic obstructive pulmonary disease; COPD","HPO_Name__c":"Chronic pulmonary obstruction","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1199","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001531","HPO_Synonym__c":"Failure to thrive in first year of life; Faltering weight in infancy; Weight faltering in infancy","HPO_Name__c":"Failure to thrive in infancy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1199","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001629","HPO_Synonym__c":"Hole in heart wall separating two lower heart chambers; Ventricular septal defects; Ventriculoseptal defect; VSD","HPO_Name__c":"Ventricular septal defect","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1199","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the heart and blood vessels.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030680","HPO_Synonym__c":"Abnormality of cardiovascular system morphology; Cardiovascular malformations","HPO_Name__c":"Abnormal cardiovascular system morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Gastroenterology","Congenital Abnormality"],"Specialist":["Genetics","Gastroenterology","Pediatrics"]},"synonyms":["abnormal connection between trachea and esophagus"," abnormal connection between trachea and oesophagus"," esophageal atresia"," esophageal atresia and/or tracheoesophageal fistula"," tof - tracheoesophageal fistula"," tracheoesophageal fistula"," tracheoesophageal fistula with or without esohageal atresia"," tracheoesophageal fistula with or without esophageal atresia"]}