{"orpha":2790,"name":"Endosteal hyperostosis, Worth type","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal dominant osteosclerosis, Worth type","Worth syndrome"],"definition":"A rare primary bone dysplasia characterized by increased and diffuse skeletal densification, particularly of the cranial vault and tubular long bones, that is not associated with an increased risk of fracture. Craniofacial anomalies usually develop during adolescence and include a prominent forehead, wide and deep mandibles, a flat nasal bridge, taurus palatinus and an increased gonial angle. Neurological complications are present in approximately one fifth of affected patients, usually in the form of entrapment neuropathies such as hearing loss, and are secondary to nerve tissue compression by hyperostotic bone, cerebellar disturbances due to a reduction in size of the posterior cranial fossa or tonsillar herniation, and chronic intracranial hypertension.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2790/","orphanet_url":"https://www.orpha.net/en/disease/detail/2790","names":{"fr":{"name":"Hyperostose endostéale type Worth","synonyms":["Ostéosclérose autosomique dominante type Worth","Syndrome de Worth"],"definition":"Dysplasie osseuse primaire rare caractérisée par une densification squelettique accrue et diffuse, en particulier au niveau de la voûte crânienne et des os longs tubulaires, qui n'est pas associée à un risque accru de fracture. Les anomalies craniofaciales apparaissent généralement à l'adolescence et comprennent un front proéminent, des mâchoires larges et profondes, un pont nasal applati, un torus palatin et une augmentation de l'angle mandibulaire. Des complications neurologiques sont présentes chez environ un cinquième des patients atteints, généralement sous la forme de neuropathies par compression de type perte auditive, et sont secondaires à une compression des tissus nerveux par l'hyperostotose, à des troubles cérébelleux dus à une réduction de la taille de la fosse crânienne postérieure ou à une hernie amygdalienne, ainsi qu'à une hypertension intracrânienne chronique."},"de":{"name":"Endostale Hyperostose, Typ Worth","synonyms":["Osteosklerose, autosomal-dominante, Typ Worth","Worth-Syndrom"]},"es":{"name":"Hiperostosis endostal tipo Worth","synonyms":["Osteosclerosis autosómica dominante tipo Worth","Síndrome de Worth"],"definition":"Es un trastorno óseo esclerosante caracterizado por una densificación esquelética generalizada, particularmente de la calota craneal y de los huesos tubulares largos, que no se asocia con un mayor riesgo de fractura."},"it":{"name":"Otosclerosi autosomica dominante, tipo Worth","synonyms":["Iperostosi endostale, tipo Worth","Sindrome di Worth"]},"nl":{"name":"Endostale hyperostose, Worth-type","synonyms":["Autosomaal dominante osteosclerose, Worth-type","Syndroom van Worth"],"definition":"Autosomaal dominante osteosclerose, Worth-type is een scleroserende aandoening van bot, gekenmerkt door gegeneraliseerde densificatie van skelet, vooral van schedeldak en pijpbeenderen, die niet geassocieerd is met een verhoogd risico op fractuur."},"pt":{"name":"Osteosclerose autossómica dominante tipo Worth","synonyms":["Hiperostose endosteal, tipo Worth","Síndrome de Worth"]},"pl":{"name":"Autosomalna dominująca osteoskleroza typu Wortha","synonyms":["Hiperostoza endosteum, typu Wortha","Zespół Wortha"]},"cs":{"name":"Autozomálně dominantní osteoskleróza, Worthův typ","synonyms":["Endosteální hyperostóza, Worthův typ","Worthův syndrom"]},"uk":{"name":"Ендостальний гіперостоз, тип Ворта","synonyms":["Аутосомно-домінантний остеосклероз, тип Ворта","Синдром Ворта"],"definition":"A rare sclerozing bone disorder characterized by generalized skeletal densification, particularly of the cranial vault and tubular long bones, which is not associated to an increased risk of fracture."},"zh":{"name":"骨内膜骨质增生，Worth型","synonyms":["常染色体显性遗传性骨硬化，Worth型"]},"tr":{"name":"Endosteal hiperostoz, Worth tipi","synonyms":["Worth sendromu","Otozomal dominant osteoskleroz, Worth tipi"]}},"xrefs":[{"source":"OMIM","code":"144750","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q78.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1038854228"},{"source":"MONDO","code":"0007764","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536748","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0432273","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"390","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"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"8030669[PMID]_18031587 [PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8030669[PMID]_18031587 [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:0000772","label":"Abnormal rib morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100923","label":"Clavicular sclerosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004493","label":"Craniofacial 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:0100789","label":"Torus palatinus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100861","label":"Sclerotic vertebral body","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010628","label":"Facial palsy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null}]}}