{"orpha":1310,"name":"Caffey disease","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Infantile cortical hyperostosis"],"definition":"Caffey disease is an osteosclerotic dysplasia characterized by acute inflammation with massive subperiosteal new bone formation usually involving the diaphyses of the long bones, as well as the ribs, mandible, scapulae, and clavicles. The disease is associated with fever, irritability pain and soft tissue swelling, with onset around the age of 2 months and resolving spontaneously by the age of 2 years. However, prenatal disease onset has also been described.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1310/","orphanet_url":"https://www.orpha.net/en/disease/detail/1310","names":{"fr":{"name":"Maladie de Caffey","synonyms":["Hyperostose corticale infantile"],"definition":"Dysplasie ostéosclérotique caractérisée par une inflammation aiguë accompagnée d'une néoformation osseuse massive sous-périostée touchant généralement les diaphyses des os longs, ainsi que les côtes, la mâchoire, l'omoplate et les clavicules. La maladie est associée à une fièvre, une irritabilité, des douleurs et un gonflement des tissus mous. Elle apparaît vers l'âge de 2 mois et se résorbe spontanément vers l'âge de 2 ans. Cependant, des cas d'apparition prénatale de la maladie ont également été décrits."},"de":{"name":"Caffey-Krankheit","synonyms":["Hyperostose, infantile kortikale"]},"es":{"name":"Enfermedad de Caffey","synonyms":["Hiperostosis cortical del lactante"],"definition":"Es una displasia osteosclerótica caracterizada por inflamación aguda acompañada de una formación masiva de hueso nuevo perióstico que, por lo general, afecta a las diáfisis de los huesos largos, así como a las costillas, la mandíbula, la escápula y las clavículas. La enfermedad está asociada a fiebre, irritabilidad, dolor e inflamación de tejidos blandos con inicio alrededor de los 2 meses de edad y remisión espontánea a los 2 años. No obstante, también se han descrito casos de inicio prenatal de la enfermedad."},"it":{"name":"Malattia di Caffey","synonyms":["Iperostosi corticale infantile"]},"nl":{"name":"Ziekte van Caffey","synonyms":["Infantiele corticale hyperostose"],"definition":"Ziekte van Caffey is een osteosclerotische dysplasie en wordt gekarakteriseerd door acute inflammatie met massale subperiostale vorming van nieuw bot, meestal met betrokkenheid van de diafysen van de pijpbeenderen, alsook van de ribben, onderkaak, schouderbladen en sleutelbeenderen. De ziekte is geassocieerd met koorts, prikkelbaarheid, pijn en zwelling van zacht weefsel, met aanvang rond de leeftijd van 2 maanden en spontane remissie tegen de leeftijd van 2 jaar. Er werd echter ook een prenatale aanvang van de ziekte beschreven."},"pt":{"name":"Doença Caffey","definition":"A doença Caffey é uma displasia osteosclerótica caracterizada por inflamação aguda com formação maciça de novo osso subperiosteal, geralmente envolvendo as diáfises dos ossos longos, bem como as costelas, a mandíbula, as omoplatas e as clavículas. A doença está associada a febre, irritabilidade, dor e edema dos tecidos moles, com início por volta dos 2 meses de idade e resolução espontânea até aos 2 anos de idade. No entanto, o início pré-natal da doença também foi descrito."},"pl":{"name":"Choroba Caffey'a","synonyms":["Dziecięca hiperostoza korowa"]},"cs":{"name":"Caffeyova nemoc","synonyms":["Infantilní kortikální hyperostóza"]},"uk":{"name":"Хвороба Каффі","synonyms":["Інфантильний кортикальний гіперостоз"],"definition":"Caffey disease is an osteosclerotic dysplasia characterized by acute inflammation with massive subperiosteal new bone formation usually involving the diaphyses of the long bones, as well as the ribs, mandible, scapulae, and clavicles. The disease is associated with fever, irritability pain and soft tissue swelling, with onset around the age of 2 months and resolving spontaneously by the age of 2 years. However, prenatal disease onset has also been described."},"zh":{"name":"婴儿骨皮质增生症","synonyms":["婴儿骨皮质增生症"]},"tr":{"name":"Caffey hastalığı","synonyms":["İnfantil kortikal hiperostoz"]}},"xrefs":[{"source":"OMIM","code":"114000","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"M89.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"284169445"},{"source":"MONDO","code":"0007244","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D006958","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0020497","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1051","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10073206","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93443,"name":"Neonatal osteosclerotic dysplasia","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"COL1A1","name":"collagen type I alpha 1 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22855962[PMID]","hgnc":"2197","ensembl":"ENSG00000108821","omim":"120150","loci":["17q21.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Unknown"],"onset":["Antenatal","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":100.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]_22855962[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0100658","label":"Cellulitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005731","label":"Cortical irregularity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100963","label":"Hyperesthesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006465","label":"Periosteal thickening of long tubular bones","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004490","label":"Calvarial hyperostosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005791","label":"Cortical thickening of long bone diaphyses","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010702","label":"Increased circulating immunoglobulin concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null}]}}