{"Name":"Metaphyseal acroscyphodysplasia","DiseaseID__c":"GARD:0003519","id":3519,"encodedName":"metaphyseal-acroscyphodysplasia","IsDeleted":false,"Disease_Name_Full__c":"Metaphyseal acroscyphodysplasia","Xref_IDs__c":"C1855243; C537350; MEDGEN:344453; MONDO:0009592; OMIM:250215","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":0,"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":2,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0009592","Disease_Description__c":"Metaphyseal acroscyphodysplasia is an extremely rare form of metaphyseal dysplasia characterized by the distinctive radiological sign of cone-shaped upper tibial and lower femoral epiphyses embedded in large cup-shaped metaphyses, associated with short stature and micromelia. Upper limb involvement includes brachydactyly and phalangeal and metacarpal cone-shaped epiphyses. The association of metaphyseal acroscyphodysplasia with psychomotor delay and alopecia has also been reported in some cases.","GARD_Name__c":"Metaphyseal acroscyphodysplasia","GARD_Synonym__c":"bellini syndrome; cupped metaphyses and cone-shaped epiphyses of knees with brachydactyly; intellectual disability-short stature-wedge-shaped epiphyses of knees syndrome; wedge-shaped  epiphyses of knees","Curated_Disease_Description_Source__c":"MONDO:0009592","Curated_Disease_Description__c":"Metaphyseal acroscyphodysplasia is an extremely rare form of metaphyseal dysplasia characterized by the distinctive radiological sign of cone-shaped upper tibial and lower femoral epiphyses embedded in large cup-shaped metaphyses, associated with short stature and micromelia. Upper limb involvement includes brachydactyly and phalangeal and metacarpal cone-shaped epiphyses. The association of metaphyseal acroscyphodysplasia with psychomotor delay and alopecia has also been reported in some cases.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:1240","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009592","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Metaphyseal acroscyphodysplasia is an extremely rare form of metaphyseal dysplasia characterized by the distinctive radiological sign of cone-shaped upper tibial and lower femoral epiphyses embedded in large cup-shaped metaphyses, associated with short stature and micromelia. Upper limb involvement includes brachydactyly and phalangeal and metacarpal cone-shaped epiphyses. The association of metaphyseal acroscyphodysplasia with psychomotor delay and alopecia has also been reported in some cases.","Curated_Disease_Description_Source__c":"MONDO:0009592","GARD_Synonym__c":"bellini syndrome; cupped metaphyses and cone-shaped epiphyses of knees with brachydactyly; intellectual disability-short stature-wedge-shaped epiphyses of knees syndrome; wedge-shaped  epiphyses of knees","Name":"Metaphyseal acroscyphodysplasia","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Little People of America","Website__c":"https://www.lpaonline.org/"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537350","Source__c":"MONDO:0009592","Xref__c":"C537350"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1855243","Source__c":"C1855243","Xref__c":"C1855243"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=344453","Source__c":"C1855243","Xref__c":"MEDGEN:344453"},{"URL__c":"https://www.omim.org/entry/250215","Source__c":"C1855243; MONDO:0009592","Xref__c":"OMIM:250215"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009592","Source__c":"GARD:0003519","Xref__c":"MONDO:0009592"}],"tags":{},"synonyms":["bellini syndrome"," cupped metaphyses and cone-shaped epiphyses of knees with brachydactyly"," intellectual disability-short stature-wedge-shaped epiphyses of knees syndrome"," wedge-shaped  epiphyses of knees"]}