{"Name":"Kenny-Caffey syndrome","DiseaseID__c":"GARD:0016594","id":16594,"encodedName":"kenny-caffey-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Kenny-Caffey syndrome","Xref_IDs__c":"82837002; C0265291; C130991; C537020; DOID:0080724; MEDGEN:75560; MONDO:0016516; OMIMPS:127000; ORPHA:2333","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":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0016516","Disease_Description__c":"A genetic condition characterized by long bone sclerosis and thickening, short stature, and head and eye anomalies. Many affected individuals have hypoparathyroidism with hypocalcemia.","GARD_Name__c":"Kenny-Caffey syndrome","GARD_Synonym__c":"kenny syndrome","Curated_Disease_Description_Source__c":"ORPHA:2333","Curated_Disease_Description__c":"A rare primary bone dysplasia syndrome characterized by growth retardation with proportionate short stature, cortical thickening and medullary stenosis of the long bones, delayed anterior fontanelle closure, hypocalcemia due to congenital hypoparathyroidism and facial dysmorphism, including prominent forehead, microphthalmia, and micrognathia. Additional manifestations include ocular and dental anomalies (e.g. corneal opacity, hyperopia, optic atrophy, tortuous retinal vessels, dental caries, enamel defects) and, occasionally, hypoplastic nails and neonatal liver disease. Inheritance may be autosomal dominant or autosomal recessive, with more severe growth retardation, small hands and feet, intellectual disability, microcephaly and recurrent bacterial infections being observed in the latter.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:2333","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0016516","ORPHANET_ID__c":"ORPHA:2333","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de kenny-caffey","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de kenny-caffey","Spanish_GARD_Synonym__c":"síndrome de kenny","Category_Linearization__c":"ORPHA:93419","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 primary bone dysplasia syndrome characterized by growth retardation with proportionate short stature, cortical thickening and medullary stenosis of the long bones, delayed anterior fontanelle closure, hypocalcemia due to congenital hypoparathyroidism and facial dysmorphism, including prominent forehead, microphthalmia, and micrognathia. Additional manifestations include ocular and dental anomalies (e.g. corneal opacity, hyperopia, optic atrophy, tortuous retinal vessels, dental caries, enamel defects) and, occasionally, hypoplastic nails and neonatal liver disease. Inheritance may be autosomal dominant or autosomal recessive, with more severe growth retardation, small hands and feet, intellectual disability, microcephaly and recurrent bacterial infections being observed in the latter.","Curated_Disease_Description_Source__c":"ORPHA:2333","GARD_Synonym__c":"kenny syndrome","Name":"Kenny-Caffey syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Children's Craniofacial Association","Website__c":"https://ccakids.org/"},{"Account_Name__c":"Little People of America","Website__c":"https://www.lpaonline.org/"},{"Account_Name__c":"FACES: The National Craniofacial Association","Website__c":"https://www.faces-cranio.org/"},{"Account_Name__c":"Human Growth Foundation","Website__c":"https://www.hgfound.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":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine 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":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:2333"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=75560","Source__c":"C0265291","Xref__c":"MEDGEN:75560"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0265291","Source__c":"C0265291","Xref__c":"C0265291"},{"URL__c":"https://www.orpha.net/en/disease/detail/2333","Source__c":"C0265291; MONDO:0016516; ORPHA:2333","Xref__c":"ORPHA:2333"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537020","Source__c":"MONDO:0016516","Xref__c":"C537020"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080724","Source__c":"MONDO:0016516","Xref__c":"DOID:0080724"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C130991","Source__c":"C0265291; MONDO:0016516","Xref__c":"C130991"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=82837002","Source__c":"C0265291; MONDO:0016516","Xref__c":"82837002"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS127000","Source__c":"MONDO:0016516","Xref__c":"OMIMPS:127000"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016516","Source__c":"GARD:0016594","Xref__c":"MONDO:0016516"}],"Inheritance__c":["Autosomal recessive","Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine","Congenital Abnormality"],"Specialist":["Genetics","Endocrine","Orthopedics","Pediatrics"]},"synonyms":["kenny syndrome"]}