{"orpha":1525,"name":"Cranio-osteoarthropathy","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Currarino disease","Currarino idiopathic osteoarthropathy","Reginato-Schiapachasse syndrome"],"definition":"Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1525/","orphanet_url":"https://www.orpha.net/en/disease/detail/1525","names":{"fr":{"name":"Cranio-ostéo-arthropathie","synonyms":["Maladie de Currarino","Ostéoarthropathie idiopathique de Currarino","Syndrome de Reginato-Schiapachasse"],"definition":"La cranio-ostéo-arthropathie (COA) est une forme rare d'ostéo-arthropathie hypertrophique primitive , caractérisée par un retard de fermeture des sutures crâniennes et des fontanelles, un hippocratisme digital, une arthropathie et une périostose."},"de":{"name":"Kranio-Osteoarthropathie","synonyms":["Reginato-Schiapachasse-Syndrom"],"definition":"Die Kranio-Osteoarthropathie (COA) ist eine Form der primären hypertrophen Oateoarthropathie (s. dort) und gekennzeichnet durch verzögerten Verschluss der Schädelnähte und Fontanellen, durch Trommelschlegelfinger, Arthropathie und Periostose."},"es":{"name":"Cráneo-osteo-artropatía","synonyms":["Enfermedad de Currarino","Osteoartropatía idiopática de Currarino","Síndrome de Reginato-Schiapachasse"],"definition":"La cráneo-osteoartropatía (COA) es una forma de osteoartropatía hipertrófica primaria (ver término) caracterizada por retraso en el cierre de las fontanelas y de las suturas craneales, hipocratismo digital, artropatía y periostosis."},"it":{"name":"Cranio-osteo-artropatia"},"nl":{"name":"Cranio-osteoartropathie","synonyms":["Currarino idiopathische osteoartropathie","Reginato-Schiapachassesyndroom","Ziekte van Currarino"],"definition":"Cranio-osteoartropathie (COA) is een vorm van primaire hypertrofische osteoartropathie (zie deze term) gekenmerkt door een vertraagde sluiting van de craniale suturen en fontanellen, trommelstokvingers, artropathie en periostose."},"pt":{"name":"Cranio-osteo-artropatia","synonyms":["Síndrome Reginato-Schiapachasse"],"definition":"A crânio-osteoartropatia (COA) é uma forma de osteoartropatia hipertrófica primária (ver este termo) caracterizada pelo encerramento tardio das suturas cranianas e fontanelas, baqueteamento digital, artropatia e periostose."},"pl":{"name":"Osteoartropatia czaszkowa","synonyms":["Choroba Currarino","Idiopatyczna osteoartropatia Currarino","Zespół Reginato i Schiapachasse"]},"cs":{"name":"Kranioosteoartropatie","synonyms":["Currarinova nemoc","Currarinova idiopatická osteoartropatie","Reginatův-Schiapachasseův syndrom","Reginato-Schiapachasseův syndrom"]},"uk":{"name":"Краніоостеоартропатія","synonyms":["Хвороба Кураріно","Ідіопатична остеоартропатія Кураріно","Синдром Реджанато-Скіапахасса"],"definition":"Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy (see this term) characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis."},"zh":{"name":"颅-骨关节病","synonyms":["Currarino特发性骨关节病"]},"tr":{"name":"Kranio-osteoartropati","synonyms":["Currarino hastalığı","Reginato-Schiapachasse sendromu","Currarino idiyopatik osteoartropati"]}},"xrefs":[{"source":"OMIM","code":"259100","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"M89.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"FB86.10","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"225223076"},{"source":"MONDO","code":"0015466","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2678439","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1564","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":248095,"name":"Primary hypertrophic osteoarthropathy","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"HPGD","name":"15-hydroxyprostaglandin dehydrogenase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18500342[PMID]_21438135[PMID]","hgnc":"5154","ensembl":"ENSG00000164120","omim":"601688","loci":["4q34.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":30.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0003103","label":"Abnormal cortical bone morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000929","label":"Abnormal skull morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000239","label":"Large fontanelles","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001070","label":"Mottled pigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002815","label":"Abnormality of the knee","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002992","label":"Abnormality of tibia morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001369","label":"Arthritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100760","label":"Clubbing of toes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001386","label":"Joint swelling","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002758","label":"Osteoarthritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004097","label":"Deviation of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000964","label":"Eczematoid dermatitis","frequency":"Occasional (29-5%)","criteria":null}]}}