{"Name":"Astley-Kendall dysplasia","DiseaseID__c":"GARD:0019050","id":19050,"encodedName":"astley-kendall-dysplasia","IsDeleted":false,"Disease_Name_Full__c":"Astley-Kendall dysplasia","Xref_IDs__c":"389263004; C1300228; C535392; MEDGEN:224886; MONDO:0019408; ORPHA:85175","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":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0019408","Disease_Description__c":"A rare, lethal skeletal dysplasia characterized by short limbed dwarfism, osteogenesis imperfecta, and punctate calcification within cartilage. It has been described in less than ten cases.","GARD_Name__c":"Astley-Kendall dysplasia","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"ORPHA:85175","Curated_Disease_Description__c":"A rare, lethal skeletal dysplasia characterized by short limbed dwarfism, osteogenesis imperfecta, and punctate calcification within cartilage.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:85175","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019408","ORPHANET_ID__c":"ORPHA:85175","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Displasia de astley-kendall","Spanish_Description_Source__c":"ORPHA:85175","Spanish_Description__c":"Es una displasia esquelética letal poco frecuente caracterizada por enanismo de extremidades cortas, osteogénesis imperfecta y calcificación punteada dentro del cartílago. Hasta la fecha se ha descrito en menos de diez casos.","Spanish_Disease_Name__c":"displasia de astley-kendall","Spanish_GARD_Synonym__c":null,"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, lethal skeletal dysplasia characterized by short limbed dwarfism, osteogenesis imperfecta, and punctate calcification within cartilage.","Curated_Disease_Description_Source__c":"ORPHA:85175","Name":"Astley-Kendall dysplasia","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":"Antenatal","Provided_By__c":"ORPHA:85175"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:85175"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1300228","Source__c":"C1300228","Xref__c":"C1300228"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=389263004","Source__c":"C1300228; MONDO:0019408","Xref__c":"389263004"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=224886","Source__c":"C1300228","Xref__c":"MEDGEN:224886"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535392","Source__c":"MONDO:0019408","Xref__c":"C535392"},{"URL__c":"https://www.orpha.net/en/disease/detail/85175","Source__c":"C1300228; MONDO:0019408; ORPHA:85175","Xref__c":"ORPHA:85175"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019408","Source__c":"GARD:0019050","Xref__c":"MONDO:0019408"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:85175","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of abnormally small extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002983","HPO_Synonym__c":"Smaller or shorter than typical limbs","HPO_Name__c":"Micromelia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85175","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of disproportionate short stature characterized by a short limbs but an average-sized trunk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008873","HPO_Synonym__c":"Brachymelic dwarfism; Disproportionate short limb dwarfism; Dwarfism, short-limbed; Micromelic dwarfism; Short limb dwarfism, disproportionate; Short stature, disproportionate short limb; Short stature, disproportionate short-limb; Short-limb dwarfism; Short-limbed dwarfism","HPO_Name__c":"Disproportionate short-limb short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85175","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the process of ossification of the skull.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002703","HPO_Name__c":"Abnormality of skull ossification","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85175","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010655","HPO_Synonym__c":"Epiphyseal punctate calcifications; Speckled calcifications in end part of bone; Stippled epiphyses; Stippling of the epiphyses","HPO_Name__c":"Epiphyseal stippling","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":[""]}