{"Name":"Acrofacial dysostosis, Kennedy-Teebi type","DiseaseID__c":"GARD:0018859","id":18859,"encodedName":"acrofacial-dysostosis-kennedy-teebi-type","IsDeleted":false,"Disease_Name_Full__c":"Acrofacial dysostosis, Kennedy-Teebi type","Xref_IDs__c":"720427009; C4304094; MEDGEN:929763; MONDO:0018980; ORPHA:64542","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":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0018980","Disease_Description__c":"A rare acrofacial dysostosis due to the presence of manifestations not usually seen in Nager syndrome (NS) such as microcephaly, blepharophimosis, microtia, a peculiar beakednose, cleft lip and palate, symmetrical involvement of the thumbs and great toes and developmental delay. It has since been suggested that these features can also be a part of the NS phenotype.","GARD_Name__c":"Acrofacial dysostosis, Kennedy-Teebi type","GARD_Synonym__c":"acrofacial dysostosis kennedy teebi type; kennedy teebi syndrome; kennedy-teebi syndrome","Curated_Disease_Description_Source__c":"MONDO:0018980","Curated_Disease_Description__c":"A rare acrofacial dysostosis due to the presence of manifestations not usually seen in Nager syndrome (NS) such as microcephaly, blepharophimosis, microtia, a peculiar beaked nose, cleft lip and palate, symmetrical involvement of the thumbs and great toes and developmental delay. It has since been suggested that these features can also be a part of the NS phenotype.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:64542","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018980","ORPHANET_ID__c":"ORPHA:64542","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Disostosis acrofacial tipo kennedy-teebi","Spanish_Description_Source__c":"ORPHA:64542","Spanish_Description__c":"Es una disostosis acrofacial poco frecuente debida a la presencia de características que, por lo general, no están presentes en el síndrome de Nager (SN) tales como microcefalia, blefarofimosis, microtia, nariz peculiar con forma de pico, fisura labiopalatina, afectación simétrica de los pulgares y dedos gordos de los pies y retraso psicomotor. Desde entonces, se ha sugerido que estas características también pueden formar parte del fenotipo del SN.","Spanish_Disease_Name__c":"disostosis acrofacial tipo kennedy-teebi","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":"A rare acrofacial dysostosis due to the presence of manifestations not usually seen in Nager syndrome (NS) such as microcephaly, blepharophimosis, microtia, a peculiar beaked nose, cleft lip and palate, symmetrical involvement of the thumbs and great toes and developmental delay. It has since been suggested that these features can also be a part of the NS phenotype.","Curated_Disease_Description_Source__c":"MONDO:0018980","GARD_Synonym__c":"acrofacial dysostosis kennedy teebi type; kennedy teebi syndrome; kennedy-teebi syndrome","Name":"Acrofacial dysostosis, Kennedy-Teebi type","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":"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":"Neonatal","Provided_By__c":"ORPHA:64542"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:64542"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=929763","Source__c":"C4304094","Xref__c":"MEDGEN:929763"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=720427009","Source__c":"C4304094; MONDO:0018980","Xref__c":"720427009"},{"URL__c":"https://www.orpha.net/en/disease/detail/64542","Source__c":"C4304094; MONDO:0018980; ORPHA:64542","Xref__c":"ORPHA:64542"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4304094","Source__c":"C4304094","Xref__c":"C4304094"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018980","Source__c":"GARD:0018859","Xref__c":"MONDO:0018980"}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["acrofacial dysostosis kennedy teebi type"," kennedy teebi syndrome"," kennedy-teebi syndrome"]}