{"Name":"Coxopodopatellar syndrome","DiseaseID__c":"GARD:0003030","id":3030,"encodedName":"coxopodopatellar-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Coxopodopatellar syndrome","Xref_IDs__c":"720752007; C1840061; C535540; DOID:0111382; MEDGEN:333474; MONDO:0007841; OMIM:147891; ORPHA:1509","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":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0007841","Disease_Description__c":"Small patella syndrome (SPS) is a very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis.","GARD_Name__c":"Coxopodopatellar syndrome","GARD_Synonym__c":"congenital coxa vara, patella aplasia and tarsal synostosis; ischiocoxopodopatellar syndrome; ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension; ischiopatellar dysplasia; patella aplasia, coxa vara, and tarsal synostosis; scott taor syndrome; scott-taor syndrome; small patella syndrome; sps","Curated_Disease_Description_Source__c":"GARD:0003030","Curated_Disease_Description__c":"Coxopodopatellar syndrome, also known as small patella syndrome (SPS), is a rare syndrome that mainly affects the way certain bones are formed (developed). A person with SPS usually has very small kneecaps (hypoplastic patella) or may have no kneecaps at all (aplastic). The hip (pelvic) bones may be weak, and the bones of the feet may not have formed correctly. Occasionally, bones in the face may also be affected. SPS is caused by a change (pathogenic variant) in the TBX4 gene. The syndrome is inherited in an autosomal dominant manner. Diagnosis of the syndrome is suspected based on features that can be seen in a physical exam and on imaging tests such as X-rays. Diagnosis of SPS can be confirmed with genetic testing.","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:1509","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007841","ORPHANET_ID__c":"ORPHA:1509","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome coxo-podo-patelar","Spanish_Description_Source__c":"ORPHA:1509","Spanish_Description__c":"Es una displasia ósea benigna muy poco frecuente que afecta a las estructuras esqueléticas de las extremidades inferiores y de la pelvis.","Spanish_Disease_Name__c":"síndrome coxo-podo-patelar","Spanish_GARD_Synonym__c":"displasia isquiopatelar; síndrome de rótula parva; síndrome de scott-taor; síndrome isquiocoxopodopatelar; síndrome isquiopubicopatelar","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":"Coxopodopatellar syndrome, also known as small patella syndrome (SPS), is a rare syndrome that mainly affects the way certain bones are formed (developed). A person with SPS usually has very small kneecaps (hypoplastic patella) or may have no kneecaps at all (aplastic). The hip (pelvic) bones may be weak, and the bones of the feet may not have formed correctly. Occasionally, bones in the face may also be affected. SPS is caused by a change (pathogenic variant) in the TBX4 gene. The syndrome is inherited in an autosomal dominant manner. Diagnosis of the syndrome is suspected based on features that can be seen in a physical exam and on imaging tests such as X-rays. Diagnosis of SPS can be confirmed with genetic testing.","Curated_Disease_Description_Source__c":"GARD:0003030","GARD_Synonym__c":"congenital coxa vara, patella aplasia and tarsal synostosis; ischiocoxopodopatellar syndrome; ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension; ischiopatellar dysplasia; patella aplasia, coxa vara, and tarsal synostosis; scott taor syndrome; scott-taor syndrome; small patella syndrome; sps","Name":"Coxopodopatellar syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"TBX4Life","Website__c":"https://tbx4.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":"Neonatal","Provided_By__c":"ORPHA:1509"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:1509"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1840061"},{"Type__c":"GTR","Curie__c":"MEDGEN:C1868581"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0003030","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/1509","Source__c":"C1840061; MONDO:0007841; ORPHA:1509","Xref__c":"ORPHA:1509"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=720752007","Source__c":"C1840061; MONDO:0007841","Xref__c":"720752007"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111382","Source__c":"MONDO:0007841","Xref__c":"DOID:0111382"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=333474","Source__c":"C1840061","Xref__c":"MEDGEN:333474"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1840061","Source__c":"C1840061","Xref__c":"C1840061"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535540","Source__c":"MONDO:0007841","Xref__c":"C535540"},{"URL__c":"https://www.omim.org/entry/147891","Source__c":"C1840061; MONDO:0007841; ORPHA:1509","Xref__c":"OMIM:147891"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007841","Source__c":"GARD:0003030","Xref__c":"MONDO:0007841"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TBX4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1509","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of developmental dysplasia of the hip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001385","HPO_Synonym__c":"Congenital hip dysplasia; DDH; Developmental dysplasia of the hip","HPO_Name__c":"Hip dysplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1509","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002644","HPO_Synonym__c":"Abnormal shape of pelvic girdle bone; Abnormality of pelvic girdle bone morphology","HPO_Name__c":"Abnormal pelvic girdle bone morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1509","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005930","HPO_Synonym__c":"Abnormal shape of end part of bone; Abnormality of epiphysis morphology; Abnormality of the epiphyses; Anomaly of the epiphyses; Epiphyseal abnormality","HPO_Name__c":"Abnormal epiphysis morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1509","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence or underdevelopment of the patella.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006498","HPO_Synonym__c":"Absent or hypoplastic patellae; Absent/hypoplastic patella; Absent/small kneecap; Absent/underdeveloped kneecap; Aplastic or hypoplastic patellae; Hypoplastic or absent patella; Patellar aplasia/hypoplasia; Small to absent patellae","HPO_Name__c":"Aplasia/Hypoplasia of the patella","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1509","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the knee joint or surrounding structures.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002815","HPO_Synonym__c":"Abnormality of the knee","HPO_Name__c":"Abnormality of the knee","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["congenital coxa vara, patella aplasia and tarsal synostosis"," ischiocoxopodopatellar syndrome"," ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension"," ischiopatellar dysplasia"," patella aplasia, coxa vara, and tarsal synostosis"," scott taor syndrome"," scott-taor syndrome"," small patella syndrome"," sps"]}