{"orpha":3416,"name":"Hyperostosis corticalis generalisata","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Hyperphosphatasemia tarda","Van Buchem disease"],"definition":"Hyperostosis corticalis generalisata, also known as van Buchem disease, is a rare craniotubular hyperostosis characterized by hyperostosis of the skull, mandible, clavicles, ribs and diaphyses of the long bones, as well as the tubular bones of the hands and feet. Clinical manifestations include increased skull thickness with cranial nerve entrapment causing inconsistent cranial nerve palsies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3416/","orphanet_url":"https://www.orpha.net/en/disease/detail/3416","names":{"fr":{"name":"Hyperostose corticale généralisée","synonyms":["Hyperphosphatasémie tardive","Maladie de Van Buchem"],"definition":"Hyperostose craniotubulaire rare caractérisée par une hyperostose du crâne, de la mandibule, des clavicules, des côtes et des diaphyses des os longs, ainsi que des os tubulaires des mains et des pieds. Sur le plan clinique, la maladie se manifeste par une augmentation de l'épaisseur du crâne et piégeage des nerfs crâniens, provoquant une paralysie de certains de ces nerfs."},"de":{"name":"Hyperostosis corticalis generalisata","synonyms":["Hyperphosphatasemia tarda","Van Buchem-Krankheit","Van Buchem-Syndrom"]},"es":{"name":"Hiperostosis cortical generalizada","synonyms":["Enfermedad de Van Buchem","Hiperfosfatasemia tardía"],"definition":"Es un tipo de hiperostosis craneotubular muy poco frecuente caracterizada por hiperostosis del cráneo, mandíbula, clavículas, costillas y diáfisis de huesos largos, así como de los huesos tubulares de manos y pies. Los hallazgos clínicos incluyen un aumento del espesor del cráneo con atrapamiento de los nervios craneales, causando parálisis de distintos nervios craneales."},"it":{"name":"Iperostosi corticale generalizzata","synonyms":["Malattia di Van Buchem"],"definition":"L'iperostosi corticale generalizzata, nota anche come malattia di van Buchem, è un'iperostosi cranio-tubolare rara, caratterizzata da iperostosi del cranio, della mandibola, della clavicole, delle costole, delle diafisi delle ossa lunghe e delle ossa tubolari delle mani e dei piedi. L'aumento dello spessore del cranio, si associa ad un intrappolamento dei nervi cranici, con paralisi secondarie di grado variabile."},"nl":{"name":"Hyperostosis corticalis generalisata","synonyms":["Hyperphosphatasemia tarda","Ziekte van Van Buchem"],"definition":"Hyperostosis corticalis generalisata, ook gekend als ziekte van van Buchem, is een zeldzame craniotubulaire hyperostose die gekarakteriseerd wordt door hyperostose van de schedel, de onderkaak, de sleutelbeenderen, de ribben en de diafysen van de pijpbeenderen, alsook van tubulaire beenderen van handen en voeten. Klinische manifestaties zijn onder meer een dikkere schedel met beknelling van hersenzenuwen, wat leidt tot inconsistente hersenzenuwverlammingen."},"pt":{"name":"Hiperostose cortical generalizada"},"pl":{"name":"Uogólniona hiperostoza korowa","synonyms":["Choroba Van Buchema","Choroba Van Buchema","Hiperfosfatemia późna"]},"cs":{"name":"Familiární generalizovaná kortikální hyperostóza","synonyms":["Van Buchemova nemoc","Hyperostosis corticalis generalisata","Van Buchemův syndrom"]},"uk":{"name":"Гіперостоз кортикальний генералізований (Hyperostosis corticalis generalisata)","synonyms":["Пізня гіперфосфатаземія","Хвороба Ван Бюхема"],"definition":"Hyperostosis corticalis generalisata, also known as van Buchem disease, is a rare craniotubular hyperostosis characterized by hyperostosis of the skull, mandible, clavicles, ribs and diaphyses of the long bones, as well as the tubular bones of the hands and feet. Clinical manifestations include increased skull thickness with cranial nerve entrapment causing inconsistent cranial nerve palsies."},"zh":{"name":"全身性骨皮质增厚","synonyms":["迟发性高磷酸盐血症"]},"tr":{"name":"Jeneralize kortikal hiperostoz","synonyms":["Van Buchem hastalığı","Hiperfosfatazemi tarda"]}},"xrefs":[{"source":"OMIM","code":"144750","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"239100","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":"241514592"},{"source":"MONDO","code":"0009395","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0432272","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2833","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":"LRP5","name":"LDL receptor related protein 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12579474[PMID]","hgnc":"6697","ensembl":"ENSG00000162337","omim":"603506","loci":["11q13.2"]},{"symbol":"SOST","name":"sclerostin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11836356[PMID]_20301406[PMID]","hgnc":"13771","ensembl":"ENSG00000167941","omim":"605740","loci":["17q21.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Adolescent","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":35.0,"area":"Worldwide","status":"Validated","source":"26968112[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26968112[PMID]"}],"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:0000889","label":"Abnormality of the clavicle","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004437","label":"Cranial hyperostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005019","label":"Diaphyseal thickening","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005789","label":"Generalized osteosclerosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010628","label":"Facial palsy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null}]}}