{"Name":"Congenital laryngeal palsy","DiseaseID__c":"GARD:0012713","id":12713,"encodedName":"congenital-laryngeal-palsy","IsDeleted":false,"Disease_Name_Full__c":"Congenital laryngeal palsy","Xref_IDs__c":"C0396058; MEDGEN:96003; MONDO:0015316; ORPHA:137932","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0015316","Disease_Description__c":"Congenital laryngeal palsy is a rare larynx anomaly characterized by unilateral or bilateral paralysis of the vocal cords as a result of dysfunction of the motor nerve supply to the larynx. Patients typically present at birth (or shortly thereafter) with stridor, weak or breathy cry, dysphonia or aphonia, feeding or aspiration difficulties and, occasionally, respiratory compromise. Neurological disease, masses that cause compression and aberrant vessels are often associated. Most cases resolve spontaneously over 6-12 months.","GARD_Name__c":"Congenital laryngeal palsy","GARD_Synonym__c":"congenital vocal cord palsy; congenital vocal cord paralysis","Curated_Disease_Description_Source__c":"GARD:0012713","Curated_Disease_Description__c":"Congenital laryngeal palsy is also known as congenital vocal cord paralysis. It may affect one (unilateral) or both (bilateral) vocal cords. The cause of bilateral paralysis of the vocal cords is often unknown (idiopathic). In some cases, paralysis may be secondary to the immaturity of the nerve or muscle (neuromuscular) or due to central nervous system damage (including the Arnold-Chiari malformation, cerebral palsy, hydrocephalus, myelomeningocele, spina bifida, hypoxia (lack of oxygen in the blood), or bleeding). Birth trauma that causes excessive tension in the neck can cause transient bilateral vocal cord paralysis that can last 6-9 months. Unilateral paralysis is usually idiopathic but can be secondary to problems with the vagus nerve or recurrent laryngeal nerve trauma. Flexible endoscopy can be used to diagnose the condition.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:137932","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015316","ORPHANET_ID__c":"ORPHA:137932","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Parálisis congénita de la laringe","Spanish_Description_Source__c":"ORPHA:137932","Spanish_Description__c":"La parálisis congénita de la laringe es una anomalía poco frecuente de la laringe caracterizada por parálisis uni- o bilateral de las cuerdas vocales como resultado de la disfunción de los nervios motores que inervan la laringe. Típicamente, los afectados presentan al nacimiento (o poco después) estridor, llanto débil o entrecortado, disfonía o afonía, dificultades para alimentarse o aspirar y, ocasionalmente, compromiso respiratorio. A menudo está asociada a enfermedades neurológicas, masas que provocan comprensión y vasos aberrantes. La mayoría de los casos se resuelven espontáneamente en un plazo de 6-12 meses.","Spanish_Disease_Name__c":"parálisis congénita de la laringe","Spanish_GARD_Synonym__c":"parálisis congénita de cuerdas vocales; parálisis congénita de las cuerdas bucales","Category_Linearization__c":"ORPHA:98036","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":"Congenital laryngeal palsy is also known as congenital vocal cord paralysis. It may affect one (unilateral) or both (bilateral) vocal cords. The cause of bilateral paralysis of the vocal cords is often unknown (idiopathic). In some cases, paralysis may be secondary to the immaturity of the nerve or muscle (neuromuscular) or due to central nervous system damage (including the Arnold-Chiari malformation, cerebral palsy, hydrocephalus, myelomeningocele, spina bifida, hypoxia (lack of oxygen in the blood), or bleeding). Birth trauma that causes excessive tension in the neck can cause transient bilateral vocal cord paralysis that can last 6-9 months. Unilateral paralysis is usually idiopathic but can be secondary to problems with the vagus nerve or recurrent laryngeal nerve trauma. Flexible endoscopy can be used to diagnose the condition.","Curated_Disease_Description_Source__c":"GARD:0012713","GARD_Synonym__c":"congenital vocal cord palsy; congenital vocal cord paralysis","Name":"Congenital laryngeal palsy","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Voice Health Institute","Website__c":"https://www.voicehealth.org/"},{"Account_Name__c":"The Voice Foundation","Website__c":"http://www.voicefoundation.org"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological 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":"Peripheral Neuropathy","Tag_Category__c":"Account","curated_tag_name":"Peripheral neuropathy"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:137932"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=96003","Source__c":"C0396058","Xref__c":"MEDGEN:96003"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0396058","Source__c":"C0396058","Xref__c":"C0396058"},{"URL__c":"https://www.orpha.net/en/disease/detail/137932","Source__c":"C0396058; MONDO:0015316; ORPHA:137932","Xref__c":"ORPHA:137932"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015316","Source__c":"GARD:0012713","Xref__c":"MONDO:0015316"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=232441008","Source__c":"C0396058","Xref__c":"232441008"}],"tags":{"Disease Category":["Neurology","Congenital Abnormality"],"Specialist":["Neurology","Otolaryngology","Pediatrics"],"Account":["Peripheral Neuropathy"]},"synonyms":["congenital vocal cord palsy"," congenital vocal cord paralysis"],"spanishId":12712,"spanishName":"paralisis-congenita-de-la-laringe"}