{"Name":"Ptosis-vocal cord paralysis syndrome","DiseaseID__c":"GARD:0000427","id":427,"encodedName":"ptosis-vocal-cord-paralysis-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Ptosis-vocal cord paralysis syndrome","Xref_IDs__c":"C1860403; C536923; MEDGEN:349807; MONDO:0008665; OMIM:193240; ORPHA:2997","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0008665","Disease_Description__c":"Ptosis-vocal cord paralysis syndrome is a rare, hereditary disorder with ptosis characterized by the combination of congenital bilateral recurrent laryngeal nerve paralysis and congenital bilateral ptosis. There have been no further descriptions in the literature since 1983.","GARD_Name__c":"Ptosis-vocal cord paralysis syndrome","GARD_Synonym__c":"congenital bilateral recurrent nerve paralysis and ptosis; ptosis and vocal cord paralysis syndrome; ptosis vocal cord paralysis; tucker syndrome; vocal cord paralysis and ptosis","Curated_Disease_Description_Source__c":"MONDO:0008665","Curated_Disease_Description__c":"Ptosis-vocal cord paralysis syndrome is a rare, hereditary disorder with ptosis characterized by the combination of congenital bilateral recurrent laryngeal nerve paralysis and congenital bilateral ptosis. There have been no further descriptions in the literature since 1983.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:2997","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008665","ORPHANET_ID__c":"ORPHA:2997","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de ptosis-parálisis de las cuerdas vocales","Spanish_Description_Source__c":"ORPHA:2997","Spanish_Description__c":"Es un trastorno con ptosis, hereditario y poco frecuente, caracterizado por la combinación de parálisis congénita bilateral recurrente del nervio laríngeo y ptosis congénita bilateral. No ha habido más casos descritos en la literatura desde 1983.","Spanish_Disease_Name__c":"síndrome de ptosis-parálisis de las cuerdas vocales","Spanish_GARD_Synonym__c":"síndrome de tucker","Category_Linearization__c":"ORPHA:97966","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":"Ptosis-vocal cord paralysis syndrome is a rare, hereditary disorder with ptosis characterized by the combination of congenital bilateral recurrent laryngeal nerve paralysis and congenital bilateral ptosis. There have been no further descriptions in the literature since 1983.","Curated_Disease_Description_Source__c":"MONDO:0008665","GARD_Synonym__c":"congenital bilateral recurrent nerve paralysis and ptosis; ptosis and vocal cord paralysis syndrome; ptosis vocal cord paralysis; tucker syndrome; vocal cord paralysis and ptosis","Name":"Ptosis-vocal cord paralysis syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Ophthalmology","Tag_Category__c":"Specialist"},{"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:2997"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=349807","Source__c":"C1860403","Xref__c":"MEDGEN:349807"},{"URL__c":"https://www.omim.org/entry/193240","Source__c":"C1860403; MONDO:0008665; ORPHA:2997","Xref__c":"OMIM:193240"},{"URL__c":"https://www.orpha.net/en/disease/detail/2997","Source__c":"C1860403; MONDO:0008665; ORPHA:2997","Xref__c":"ORPHA:2997"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1860403","Source__c":"C1860403","Xref__c":"C1860403"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536923","Source__c":"MONDO:0008665","Xref__c":"C536923"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008665","Source__c":"GARD:0000427","Xref__c":"MONDO:0008665"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=771263004","Source__c":"C1860403","Xref__c":"771263004"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2997","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of speech characterized by the presence of an abnormally increased nasal airflow during speech associated with structural abnormality of the nasal passages.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001611","HPO_Synonym__c":"Hypernasal voice; Nasal speech; Nasal voice","HPO_Name__c":"Hypernasal speech","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2997","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002301","HPO_Synonym__c":"Paralysis on one side of body","HPO_Name__c":"Hemiplegia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2997","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000508","HPO_Synonym__c":"Blepharoptosis; Drooping upper eyelid; Eyelid ptosis; Palpebral ptosis","HPO_Name__c":"Ptosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2997","HPO_Frequency__c":"Very frequent (80-99%)","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:2997","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003510","HPO_Synonym__c":"Dwarfism; Proportionate dwarfism; Severe short stature; Short stature, extreme; Short stature, severe","HPO_Name__c":"Severe short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2997","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The birth of a baby of less than 37 weeks of gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001622","HPO_Synonym__c":"Premature birth; Premature delivery; Premature delivery of affected infants; Preterm birth; Preterm delivery; Shortened gestation time","HPO_Name__c":"Premature birth","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Pediatrics"]},"synonyms":["congenital bilateral recurrent nerve paralysis and ptosis"," ptosis and vocal cord paralysis syndrome"," ptosis vocal cord paralysis"," tucker syndrome"," vocal cord paralysis and ptosis"]}