{"orpha":1509,"name":"Coxopodopatellar syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Ischiocoxopodopatellar syndrome","Ischiopatellar dysplasia","Ischiopubicpatellar syndrome","SPS","Scott-Taor syndrome","Small patella syndrome"],"definition":"A rare genetic condition characterized by the association of patellar aplasia or hypoplasia, pelvic abnormalities, and foot malformations, with or without pulmonary arterial hypertension.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1509/","orphanet_url":"https://www.orpha.net/en/disease/detail/1509","names":{"fr":{"name":"Syndrome coxo-podo-patellaire","synonyms":["Dysplasie ischio-patellaire","Syndrome de Scott-Taor","Syndrome de la petite rotule","Syndrome ischio-coxo-podo-patellaire","Syndrome ischio-pubien-patellaire"],"definition":"Maladie génétique rare caractérisée par l'association d'une aplasie ou d'une hypoplasie de la rotule, d'anomalies pelviennes et de malformations du pied, avec ou sans hypertension artérielle pulmonaire."},"de":{"name":"Small-Patella-Syndrom","synonyms":["Coxo-podo-patellares Syndrom","Dysplasie, ischiopatellare","SPS","Scott-Taor-Syndrom"],"definition":"Eine seltene genetische Störung, die durch die Assoziation von Patella-Aplasie oder -Hypoplasie, Beckenanomalien und Fehlbildungen der Füße mit oder ohne pulmonale arterielle Hypertonie gekennzeichnet ist."},"es":{"name":"Síndrome coxo-podo-patelar","synonyms":["Displasia isquiopatelar","Síndrome de Scott-Taor","Síndrome de rótula parva","Síndrome isquiocoxopodopatelar","Síndrome isquiopubicopatelar"],"definition":"Es un trastorno poco frecuente de origen genético caracterizado por la asociación de aplasia o hipoplasia rotuliana, anomalías pélvicas y malformaciones del pie, con o sin hipertensión arterial pulmonar."},"it":{"name":"Sindrome coxo-podo-patellare","synonyms":["Displasia ischio-patellare","SPS","Sindrome di Scott-Taor","Sindrome da ipoplasia della rotula","Sindrome ischiocoxopodopatellare","Sindrome ischiopubicopatellare"]},"nl":{"name":"Coxopodopatellair syndroom","synonyms":["Ischiocoxopodopatellair syndroom","Ischiopatellaire dysplasie","Ischiopubisch-patellair syndroom","Kleine patella-syndroom","SPS","Syndroom van Scott-Taor"],"definition":"Een zeldzame genetische aandoening, gekenmerkt door de associatie van aplasie of hypoplasie van patella, afwijkingen van pelvis, en voetmalformaties, met of zonder pulmonale arteriële hypertensie."},"pt":{"name":"Síndrome coxo-podo-rotuliana","synonyms":["Displasia isquio-rotuliana","SPS","Síndrome Scott-Taor","Síndrome da rótula pequena","Síndrome isquio-coxo-podo-rotuliana","Síndrome isquio-pubis-rotuliana"],"definition":"Doença genética rara caracterizada pela associação de aplasia ou hipoplasia patelar, anomalias pélvicas e malformações dos pés, com ou sem hipertensão arterial pulmonar."},"pl":{"name":"Zespół biodrowo-podeszwowo-rzepkowy","synonyms":["Dysplazja kulszowo-rzepkowa","SPS","Zespół małej rzepki","Zespół Scotta i Taora"]},"cs":{"name":"Koxopodopatelární syndrom","synonyms":["Ischiopatelární dysplázie","SPS","Syndrom malé pately","Scottův-Taorův syndrom","Scott-Taorův syndrom"]},"uk":{"name":"Коксоподопателлярний синдром","synonyms":["Іхіопателлярна дисплазія","Синдром Скотта-Таора","Синдром малого надколінка","SPS"],"definition":"Small patella syndrome (SPS) is a very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis."},"zh":{"name":"小髌骨综合征","synonyms":["坐骨-髌骨发育不良"]},"tr":{"name":"Koksopodopatellar sendromu","synonyms":["SPS","Scott-Taor sendromu","Küçük patella sendromu","Ischiopatellar displazi"]}},"xrefs":[{"source":"OMIM","code":"147891","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q74.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.JY","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"794154672"},{"source":"MONDO","code":"0007841","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535540","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1840061","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3030","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10086423","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":3112,"name":"Patella aplasia-coxa vara-tarsal synostosis syndrome","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":93455,"name":"Patellar dysostosis","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"TBX4","name":"T-box transcription factor 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15106123[PMID]","hgnc":"11603","ensembl":"ENSG00000121075","omim":"601719","loci":["17q23.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":47.0,"area":"Worldwide","status":"Validated","source":"11303519[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_11303519[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0005930","label":"Abnormality of epiphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002815","label":"Abnormality of the knee","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006498","label":"Aplasia/Hypoplasia of the patella","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002644","label":"Abnormality of pelvic girdle bone morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001385","label":"Hip dysplasia","frequency":"Frequent (79-30%)","criteria":null}]}}