{"Name":"Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome","DiseaseID__c":"GARD:0022068","id":22068,"encodedName":"cleft-lip-and-palate-craniofacial-dysmorphism-congenital-heart-defect-hearing-loss-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome","Xref_IDs__c":"C5568767; MEDGEN:1800190; MONDO:0034820; ORPHA:508476","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"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":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0034820","Disease_Description__c":"A rare genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability characterized by unilateral or bilateral cleft lip and palate and craniofacial dysmorphism (including frontal bossing, hypertelorism, broad flat nasal bridge, cupped ears/thickened helices, and micrognathia). Additional manifestations are variable congenital cardiac anomalies, pectus excavatum, abnormalities of the hands and feet, ocular abnormalities (myopia, cataract, staphyloma), and conductive or sensorineural hearing loss.","GARD_Name__c":"Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome","GARD_Synonym__c":"cleft lip and palate-craniofacial dysmorphism-congenital heart defect-deafness syndrome; cleft lip and palate, craniofacial dysmorphism, congenital heart defect, deafness syndrome; cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome; hyaluronidase 2 deficiency","Curated_Disease_Description_Source__c":"MONDO:0034820","Curated_Disease_Description__c":"A rare genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability characterized by unilateral or bilateral cleft lip and palate and craniofacial dysmorphism (including frontal bossing, hypertelorism, broad flat nasal bridge, cupped ears/thickened helices, and micrognathia). Additional manifestations are variable congenital cardiac anomalies, pectus excavatum, abnormalities of the hands and feet, ocular abnormalities (myopia, cataract, staphyloma), and conductive or sensorineural hearing loss.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:508476","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0034820","ORPHANET_ID__c":"ORPHA:508476","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de labio leporino y paladar hendido-dismorfia craneofacial-defecto cardíaco congénito-hipoacusia","Spanish_Description_Source__c":"ORPHA:508476","Spanish_Description__c":"Es un síndrome dismórfico/ de múltiples anomalías congénitas de base genética y poco frecuente sin discapacidad intelectual caracterizado por hendidura labio-palatina uni- o bilateral y dismorfia craneofacial (incluyendo frente prominente, hipertelorismo, puente nasal ancho y aplanado, orejas ahuecadas/hélix engrosado y micrognatia). Otras manifestaciones adicionales incluyen anomalías cardíacas congénitas variables, <i>pectus excavatum</i>, anomalías de las manos y los pies, anomalías oculares (miopía, cataratas, estafiloma) e hipoacusia de conducción o neurosensorial.","Spanish_Disease_Name__c":"síndrome de labio leporino y paladar hendido-dismorfia craneofacial-defecto cardíaco congénito-hipoacusia","Spanish_GARD_Synonym__c":"deficiencia de hialuronidasa 2; síndrome de labio leporino y paladar hendido-dismorfia craneofacial-defecto cardíaco congénito-sordera","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 rare genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability characterized by unilateral or bilateral cleft lip and palate and craniofacial dysmorphism (including frontal bossing, hypertelorism, broad flat nasal bridge, cupped ears/thickened helices, and micrognathia). Additional manifestations are variable congenital cardiac anomalies, pectus excavatum, abnormalities of the hands and feet, ocular abnormalities (myopia, cataract, staphyloma), and conductive or sensorineural hearing loss.","Curated_Disease_Description_Source__c":"MONDO:0034820","GARD_Synonym__c":"cleft lip and palate-craniofacial dysmorphism-congenital heart defect-deafness syndrome; cleft lip and palate, craniofacial dysmorphism, congenital heart defect, deafness syndrome; cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome; hyaluronidase 2 deficiency","Name":"Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing lo","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"FACES: The National Craniofacial Association","Website__c":"https://www.faces-cranio.org/"},{"Account_Name__c":"American Cleft Palate Craniofacial Association","Website__c":"https://acpacares.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":"Cardiology","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":"Otolaryngology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Craniofacial Anomalies","Tag_Category__c":"Account","curated_tag_name":"Craniofacial anomalies"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:508476"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5568767","Source__c":"C5568767","Xref__c":"C5568767"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1800190","Source__c":"C5568767","Xref__c":"MEDGEN:1800190"},{"URL__c":"https://www.orpha.net/en/disease/detail/508476","Source__c":"C5568767; MONDO:0034820; ORPHA:508476","Xref__c":"ORPHA:508476"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0034820","Source__c":"GARD:0022068","Xref__c":"MONDO:0034820"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1187039001","Source__c":"C5568767","Xref__c":"1187039001"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK594824","Xref__c":"NBK594824"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"HYAL2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Cardiology","Otolaryngology","Pediatrics"],"Account":["Craniofacial Anomalies"]},"synonyms":["cleft lip and palate-craniofacial dysmorphism-congenital heart defect-deafness syndrome"," cleft lip and palate, craniofacial dysmorphism, congenital heart defect, deafness syndrome"," cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome"," hyaluronidase 2 deficiency"]}