{"Name":"Laryngotracheoesophageal cleft","DiseaseID__c":"GARD:0003188","id":3188,"encodedName":"laryngotracheoesophageal-cleft","IsDeleted":false,"Disease_Name_Full__c":"Laryngotracheoesophageal cleft","Xref_IDs__c":"232461002; C537875; C98622; CN293971; MEDGEN:976355; MONDO:0016060; ORPHA:2004","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0016060","Disease_Description__c":"A laryngo-tracheo-esophageal cleft (LC) is a congenital malformation characterized by an abnormal, posterior, sagittal communication between the larynx and the pharynx, possibly extending downward between the trachea and the esophagus.","GARD_Name__c":"Laryngotracheoesophageal cleft","GARD_Synonym__c":"congenital cleft larynx; larnygeotracheoesophageal cleft; laryngeal cleft; laryngo-tracheo-esophageal cleft; laryngo-tracheo-esophageal diastema; lc; ltec; tracheal cleft","Curated_Disease_Description_Source__c":"GARD:0003188","Curated_Disease_Description__c":"A laryngotracheoesophageal cleft (also known as laryngeal cleft) is a rare malformation involving the larynx (known as the voice box) and the esophagus (known as the food pipe). Normally, when the larynx develops, it is completely separate from the esophagus so that swallowed foods travel directly through the esophagus into the stomach. A laryngotracheoesophageal cleft occurs when these structures do not develop normally in an embryo, and there is an opening connecting the larynx (and sometimes trachea) and the esophagus. This enables food and liquid that is swallowed to pass through the opening to the larynx, and into the lungs. Signs and symptoms may appear in the first few months of life and may include feeding problems, trouble swallowing, failure to thrive, reflux, coughing, wheezing, stridor, aspiration, respiratory distress, and recurrent lung infections. There are several different types of laryngotracheoesophageal clefts (types I through IV), which are classified based on the specific location and extent (severity) of the cleft. A cleft can occur as an isolated abnormality, as part of an underlying syndrome or condition (such as Opitz-Frias, VACTERL, Pallister-Hall, CHARGE), or with other associated malformations.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:2004","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0016060","ORPHANET_ID__c":"ORPHA:2004","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hendidura laringotraqueoesofágica","Spanish_Description_Source__c":"ORPHA:2004","Spanish_Description__c":"La hendidura laringotraqueoesofágica (LC) es una malformación congénita caracterizada por una comunicación posterior, anómala, entre la laringe y la faringe, que puede extenderse hacia abajo, entre la tráquea y el esófago.","Spanish_Disease_Name__c":"hendidura laringotraqueoesofágica","Spanish_GARD_Synonym__c":"diastema laringotraqueoesofágica; hendidura laringo-traqueo-esofágica; lc; ltec","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":"A laryngotracheoesophageal cleft (also known as laryngeal cleft) is a rare malformation involving the larynx (known as the voice box) and the esophagus (known as the food pipe). Normally, when the larynx develops, it is completely separate from the esophagus so that swallowed foods travel directly through the esophagus into the stomach. A laryngotracheoesophageal cleft occurs when these structures do not develop normally in an embryo, and there is an opening connecting the larynx (and sometimes trachea) and the esophagus. This enables food and liquid that is swallowed to pass through the opening to the larynx, and into the lungs. Signs and symptoms may appear in the first few months of life and may include feeding problems, trouble swallowing, failure to thrive, reflux, coughing, wheezing, stridor, aspiration, respiratory distress, and recurrent lung infections. There are several different types of laryngotracheoesophageal clefts (types I through IV), which are classified based on the specific location and extent (severity) of the cleft. A cleft can occur as an isolated abnormality, as part of an underlying syndrome or condition (such as Opitz-Frias, VACTERL, Pallister-Hall, CHARGE), or with other associated malformations.","Curated_Disease_Description_Source__c":"GARD:0003188","GARD_Synonym__c":"congenital cleft larynx; larnygeotracheoesophageal cleft; laryngeal cleft; laryngo-tracheo-esophageal cleft; laryngo-tracheo-esophageal diastema; lc; ltec; tracheal cleft","Name":"Laryngotracheoesophageal cleft","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"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":"Pulmonology","Tag_Category__c":"Disease Category;Specialist","category_description":"Respiratory diseases affect the nose, mouth, throat, voice box, windpipe, lungs, or blood vessels.","curated_tag_name":"Respiratory 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":"Otolaryngology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2004"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:2004"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/2004","Source__c":"CN293971; MONDO:0016060","Xref__c":"ORPHA:2004"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537875","Source__c":"MONDO:0016060","Xref__c":"C537875"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C98622","Source__c":"MONDO:0016060","Xref__c":"C98622"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=232461002","Source__c":"MONDO:0016060","Xref__c":"232461002"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016060","Source__c":"GARD:0003188","Xref__c":"MONDO:0016060"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=976355","Source__c":"CN293971","Xref__c":"MEDGEN:976355"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/CN293971","Source__c":"CN293971","Xref__c":"CN293971"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2004","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001608","HPO_Synonym__c":"Abnormality of the voice; Voice abnormality","HPO_Name__c":"Abnormality of the voice","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2004","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:2004","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Stridor is a high pitched sound resulting from turbulent air flow in the upper airway.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010307","HPO_Name__c":"Stridor","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2004","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Incidents in which a piece of food or other objects get stuck in the upper airway and provoke coughing, gagging, inability to talk, and difficulty breathing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030842","HPO_Name__c":"Choking episodes","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2004","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001615","HPO_Synonym__c":"Hoarse cry","HPO_Name__c":"Hoarse cry","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2004","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001601","HPO_Synonym__c":"Softening of voice box tissue","HPO_Name__c":"Laryngomalacia","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2004","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012735","HPO_Synonym__c":"Cough; Coughing","HPO_Name__c":"Cough","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2004","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002094","HPO_Synonym__c":"Abnormal breathing; Breathing difficulty; Difficult to breathe; Difficulty breathing; Shortness of breath; Trouble breathing","HPO_Name__c":"Dyspnea","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2004","HPO_Frequency__c":"Frequent (30-79%)","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:2004","HPO_Frequency__c":"Frequent (30-79%)","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:2004","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Respiratory difficulty as newborn.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002643","HPO_Synonym__c":"Infantile respiratory distress; Neonatal respiratory distress; Newborn respiratory distress; Respiratory distress, neonatal","HPO_Name__c":"Neonatal respiratory distress","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2004","HPO_Frequency__c":"Always (100%)","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:2004","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Delay or absence of the swallow response, reflexes triggered by the contact the food bolus makes with the anterior faucial pillars.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031162","HPO_Name__c":"Impaired oropharyngeal swallow response","Feature_System__c":"Nervous System; Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Pulmonology","Gastroenterology","Congenital Abnormality"],"Specialist":["Genetics","Pulmonology","Gastroenterology","Otolaryngology","Pediatrics"]},"synonyms":["congenital cleft larynx"," larnygeotracheoesophageal cleft"," laryngeal cleft"," laryngo-tracheo-esophageal cleft"," laryngo-tracheo-esophageal diastema"," lc"," ltec"," tracheal cleft"]}