{"Name":"Short stature-advanced bone age-early-onset osteoarthritis syndrome","DiseaseID__c":"GARD:0017717","id":17717,"encodedName":"short-stature-advanced-bone-age-early-onset-osteoarthritis-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Short stature-advanced bone age-early-onset osteoarthritis syndrome","Xref_IDs__c":"C5681177; MEDGEN:1811782; MONDO:0018566; ORPHA:435804","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":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:435804","Disease_Description__c":"A rare, primary bone dysplasia characterized by proportional short stature, early cessation of bone growth, accelerated skeletal maturation, variable presence of early-onset osteoarthritis and osteochondritis dissecans, and normal endocrine evaluation. The variable dysmorphic features include mild to relative macrocephaly, frontal bossing, midfacial hypoplasia, flat nasal bridge, brachydactyly, broad thumbs, and lordosis.","GARD_Name__c":"Short stature-advanced bone age-early-onset osteoarthritis syndrome","GARD_Synonym__c":"short stature, advanced bone age, early-onset osteoarthritis syndrome","Curated_Disease_Description_Source__c":"ORPHA:435804","Curated_Disease_Description__c":"A rare, primary bone dysplasia characterized by proportional short stature, early cessation of bone growth, accelerated skeletal maturation, variable presence of early-onset osteoarthritis and osteochondritis dissecans, and normal endocrine evaluation. The variable dysmorphic features include mild to relative macrocephaly, frontal bossing, midfacial hypoplasia, flat nasal bridge, brachydactyly, broad thumbs, and lordosis.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child and as a Teenager","SourceID__c":"ORPHA:435804","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018566","ORPHANET_ID__c":"ORPHA:435804","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de talla baja-edad ósea avanzada-osteoartritis de inicio precoz","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de talla baja-edad ósea avanzada-osteoartritis de inicio precoz","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, primary bone dysplasia characterized by proportional short stature, early cessation of bone growth, accelerated skeletal maturation, variable presence of early-onset osteoarthritis and osteochondritis dissecans, and normal endocrine evaluation. The variable dysmorphic features include mild to relative macrocephaly, frontal bossing, midfacial hypoplasia, flat nasal bridge, brachydactyly, broad thumbs, and lordosis.","Curated_Disease_Description_Source__c":"ORPHA:435804","GARD_Synonym__c":"short stature, advanced bone age, early-onset osteoarthritis syndrome","Name":"Short stature-advanced bone age-early-onset osteoarthritis syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"UCLA International Skeletal Dysplasia Registry (ISDR)","Website__c":"https://www.uclahealth.org/ortho/isdr"},{"Account_Name__c":"Little People of America","Website__c":"https://www.lpaonline.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":"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:435804"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:435804"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1811782","Source__c":"C5681177","Xref__c":"MEDGEN:1811782"},{"URL__c":"https://www.orpha.net/en/disease/detail/435804","Source__c":"C5681177; MONDO:0018566; ORPHA:435804","Xref__c":"ORPHA:435804"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5681177","Source__c":"C5681177","Xref__c":"C5681177"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018566","Source__c":"GARD:0017717","Xref__c":"MONDO:0018566"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1197586007","Source__c":"C5681177","Xref__c":"1197586007"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ACAN","GHR_URL__c":"https://medlineplus.gov/genetics/gene/acan","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:435804","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007281","HPO_Synonym__c":"Developmental arrest","HPO_Name__c":"Developmental stagnation","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:435804","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hypoplasia (congenital reduction in size) of the thumb.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009778","HPO_Synonym__c":"Hypoplastic thumb; Hypoplastic thumbs; Hypoplastic/small thumb; Short thumb; Short thumbs; Small thumbs; Thumb brachydactyly; Thumb hypoplasia","HPO_Name__c":"Short thumb","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:435804","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Degeneration (wear and tear) of articular cartilage, i.e., of the joint surface. Joint degeneration may be accompanied by osteophytes (bone overgrowth), narrowing of the joint space, regions of sclerosis at the joint surface, or joint deformity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002758","HPO_Synonym__c":"Degenerative joint disease","HPO_Name__c":"Osteoarthritis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:435804","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001156","HPO_Synonym__c":"Brachydactyly syndrome; Short fingers or toes","HPO_Name__c":"Brachydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:435804","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011800","HPO_Synonym__c":"Decreased size of midface; Flat midface; Hypoplasia of midface; Midface deficiency; Midface hypoplasia; Midface retrusion; Midface, flat; Retrusive midface; Underdevelopment of midface","HPO_Name__c":"Midface retrusion","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["short stature, advanced bone age, early-onset osteoarthritis syndrome"]}