{"Name":"Telecanthus-hypertelorism-strabismus-pes cavus syndrome","DiseaseID__c":"GARD:0018791","id":18791,"encodedName":"telecanthus-hypertelorism-strabismus-pes-cavus-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Telecanthus-hypertelorism-strabismus-pes cavus syndrome","Xref_IDs__c":"CN204205; MEDGEN:799090; MONDO:0017997; ORPHA:3293","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":6,"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":3,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0017997","Disease_Description__c":"Telecanthus-hypertelorism-strabismus-pes cavus syndrome is characterized by telecanthus, hypertelorism, strabismus, pes cavus and other variable anomalies. It has been described in a father and his son. The son also had hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of the fingers, and radiographic findings including flared metaphyses of the long bones and osteopenia.","GARD_Name__c":"Telecanthus-hypertelorism-strabismus-pes cavus syndrome","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"ORPHA:3293","Curated_Disease_Description__c":"Telecanthus-hypertelorism-strabismus-pes cavus syndrome is characterized by telecanthus, hypertelorism, strabismus, pes cavus and other variable anomalies. Some patients also experience hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of the fingers, and radiographic findings including flared metaphyses of the long bones and osteopenia.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:3293","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017997","ORPHANET_ID__c":"ORPHA:3293","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de telecanto-hipertelorismo-estrabismo-pie cavo","Spanish_Description_Source__c":"ORPHA:3293","Spanish_Description__c":"Es un síndrome caracterizado por telecanto, hipertelorismo, estrabismo, pie cavo y otras anomalías variables. Se ha descrito en un padre y su hijo. El hijo también presentaba hipospadias, hernia inguinal bilateral, clinodactilia y camptodactilia de los dedos de los pies y resultados radiográficos que incluían ensanchamiento de las metáfisis de los huesos largos y osteopenia.","Spanish_Disease_Name__c":"síndrome de telecanto-hipertelorismo-estrabismo-pie cavo","Spanish_GARD_Synonym__c":null,"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":"Telecanthus-hypertelorism-strabismus-pes cavus syndrome is characterized by telecanthus, hypertelorism, strabismus, pes cavus and other variable anomalies. Some patients also experience hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of the fingers, and radiographic findings including flared metaphyses of the long bones and osteopenia.","Curated_Disease_Description_Source__c":"ORPHA:3293","Name":"Telecanthus-hypertelorism-strabismus-pes cavus 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":"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":"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":"Neuro-Ophthalmology","Tag_Category__c":"Specialist","curated_tag_name":"Neuro-ophthalmic diseases"},{"Tag_Name__c":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:3293"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/3293","Source__c":"CN204205; MONDO:0017997","Xref__c":"ORPHA:3293"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=799090","Source__c":"CN204205","Xref__c":"MEDGEN:799090"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/CN204205","Source__c":"CN204205","Xref__c":"CN204205"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017997","Source__c":"GARD:0018791","Xref__c":"MONDO:0017997"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Ophthalmology","Neuro-Ophthalmology","Neurodevelopmental disabilities","Pediatrics"]},"synonyms":[""]}