{"orpha":1328,"name":"Camurati-Engelmann disease","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Progressive diaphyseal dysplasia"],"definition":"Camurati-Engelmann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1328/","orphanet_url":"https://www.orpha.net/en/disease/detail/1328","names":{"fr":{"name":"Maladie de Camurati-Engelmann","synonyms":["Dysplasie diaphysaire progressive"],"definition":"La maladie de Camurati-Engelmann est une dysplasie osseuse cliniquement variable caractérisée par une hyperostose des os longs, du crâne, de la colonne vertébrale et du pelvis, associée à une douleur sévère au niveau des extrémités, une démarche dandinante, des contractures articulaires, une faiblesse musculaire et une fatigabilité accrue."},"de":{"name":"Camurati-Engelmann-Syndrom","synonyms":["Camurati-Engelmann-Krankheit","Dysplasie, diaphysäre progressive"],"definition":"Die Camurati-Englemann-Krankheit (CED) ist ein seltenes, klinisch unterschiedlich ausgeprägtes Knochendysplasie-Syndrom und gekennzeichnet durch Hyperostose der langen Knochen, des Schädels, der Wirbelsäule und des Beckens. Hieraus resultieren schwere Schmerzen in den Extremitäten, ein breitbasiger wackelnder Gang, Gelenkkontrakturen, Muskelschwäche und leichtes Ermüden."},"es":{"name":"Síndrome de Camurati-Engelmann","definition":"La enfermedad de Camurati-Engelmann (CED) es una displasia ósea rara y clínicamente variable que se caracteriza por hiperostosis de los huesos largos, el cráneo, la columna vertebral y la pelvis asociada a dolor intenso en las extremidades, marcha de pato con base de sustentación amplia, contracturas articulares, debilidad muscular y facilidad para fatigarse."},"it":{"name":"Sindrome di Camurati-Engelmann","synonyms":["Displasia diafisaria progressiva"],"definition":"La malattia di Camurati-Englemann (CED) è una displasia ossea rara, clinicamente variabile, caratterizzata da iperostosi delle ossa lunghe, del cranio, della colonna vertebrale e del bacino, associata a dolore intenso agli arti, andatura ondeggiante a base larga, contratture articolari, debolezza muscolare e facilità all'affaticamento."},"nl":{"name":"Ziekte van Camurati-Engelmann","synonyms":["Progressieve diafysaire dysplasie"],"definition":"De ziekte van Camurati-Engelmann (CED) is een zeldzaam, klinisch variabel botdysplasiesyndroom gekenmerkt door hyperostose van de lange beenderen, schedel, wervelkolom en het bekken en gaat gepaard met ernstige pijn in de ledematen, een breed gangspoor met waggelende gang, gewrichtscontracturen, spierzwakte en snelle vermoeidheid."},"pt":{"name":"Doença de Camurati-Engelmann","synonyms":["Displasia diafisária progressiva"]},"pl":{"name":"Choroba Camuratiego i Engelmanna","synonyms":["Dysplazja przynasadowa postępująca"]},"cs":{"name":"Camuratiho-Engelmannova choroba","synonyms":["Diafyzární progresivní dysplázie","Camurati-Engelmannova choroba"]},"uk":{"name":"Хвороба Камураті-Енгельмана","synonyms":["Прогресуюча діафізарна дисплазія"],"definition":"Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability."},"zh":{"name":"进行性骨干发育不良","synonyms":["进行性骨干发育不良"]},"tr":{"name":"Camurati-Engelmann hastalığı","synonyms":["İlerleyici diyafiz displazisi"]}},"xrefs":[{"source":"OMIM","code":"131300","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q78.3","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LD24.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1008460152"},{"source":"MONDO","code":"0007542","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D003966","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0011989","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1072","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10087147","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93444,"name":"Primary bone dysplasia with increased bone density","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"TGFB1","name":"transforming growth factor beta 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301335[PMID]","hgnc":"11766","ensembl":"ENSG00000105329","omim":"190180","loci":["19q13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":300.0,"area":"Worldwide","status":"Validated","source":"20301335[PMID]"},{"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:0000940","label":"Abnormal diaphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031095","label":"Abnormal humerus morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002818","label":"Abnormal morphology of the radius","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040071","label":"Abnormal morphology of ulna","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000929","label":"Abnormal skull morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002823","label":"Abnormality of femur morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000925","label":"Abnormality of the vertebral column","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006501","label":"Aplasia/Hypoplasia of the radius","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002653","label":"Bone pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004326","label":"Cachexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005791","label":"Cortical thickening of long bone diaphyses","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005464","label":"Craniofacial osteosclerosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012544","label":"Elevated circulating aldolase concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100774","label":"Hyperostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002652","label":"Skeletal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002992","label":"Abnormality of tibia morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100255","label":"Metaphyseal dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002515","label":"Waddling gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007552","label":"Abnormal subcutaneous fat tissue distribution","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002644","label":"Abnormality of pelvic girdle bone morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002039","label":"Anorexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000670","label":"Carious teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002673","label":"Coxa valga","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003565","label":"Elevated erythrocyte sedimentation rate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010628","label":"Facial palsy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003307","label":"Hyperlordosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001639","label":"Hypertrophic cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001882","label":"Leukopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007807","label":"Optic nerve compression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000763","label":"Sensory neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001533","label":"Slender build","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000016","label":"Urinary retention","frequency":"Occasional (29-5%)","criteria":null}]}}