{"orpha":1513,"name":"Craniodiaphyseal dysplasia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1513/","orphanet_url":"https://www.orpha.net/en/disease/detail/1513","names":{"fr":{"name":"Dysplasie cranio-diaphysaire","definition":"Une sclérose osseuse rare, d'expression phénotypique variable. Elle se caractérise par une sclérose et une hyperostose généralisées massives, affectant surtout le crâne et les os du visage. Elle peut conduire à une déformation sévère."},"de":{"name":"Dysplasie, kraniodiaphysäre"},"es":{"name":"Displasia craneodiafisaria","definition":"Es un trastorno óseo esclerótico poco frecuente con una expresión fenotípica variable que se manifiesta como hiperostosis generalizada masiva y esclerosis, en particular del cráneo y de los huesos faciales, que puede conducir a una deformidad grave."},"it":{"name":"Displasia craniodiafisaria"},"nl":{"name":"Craniodiafysaire dysplasie","definition":"Een zeldzame sclerotische aandoening van bot, gekenmerkt door variabele fenotypische expressie met massale gegeneraliseerde hyperostose en sclerose, vooral van schedel en aangezichtsbeenderen, die kunnen leiden tot ernstige deformiteit."},"pt":{"name":"Displasia cranio-diafisária"},"pl":{"name":"Dysplazja czaszkowo-trzonowa"},"cs":{"name":"Kraniodiafyzární dysplázie"},"uk":{"name":"Краніодіафізарна дисплазія","definition":"Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity."},"zh":{"name":"颅骨骨干发育异常"},"tr":{"name":"Kraniyodiyafizer displazi"}},"xrefs":[{"source":"OMIM","code":"122860","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"218300","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"M85.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"505073582"},{"source":"MONDO","code":"0009031","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562940","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0410539","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1567","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":98038,"name":"Cranial malformation","classifications":[147]},{"orpha":183542,"name":"Genetic cranial malformation","classifications":[156]},{"orpha":93444,"name":"Primary bone dysplasia with increased bone density","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"SOST","name":"sclerostin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21221996[PMID]","hgnc":"13771","ensembl":"ENSG00000167941","omim":"605740","loci":["17q21.31"]},{"symbol":"SP7","name":"Sp7 transcription factor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"36436818[PMID]","hgnc":"17321","ensembl":"ENSG00000170374","omim":"606633","loci":["12q13.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","Not applicable"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":20.0,"area":"Worldwide","status":"Validated","source":"21221996[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:0000772","label":"Abnormal rib morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004493","label":"Craniofacial hyperostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005019","label":"Diaphyseal thickening","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000402","label":"Stenosis of the external auditory canal","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null}]}}