{"orpha":99792,"name":"Dentin dysplasia-sclerotic bones syndrome","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"Dentin dysplasia-sclerotic bones syndrome is a rare, genetic odontologic disease characterized by the clinical, radiographic, and histologic features of dentine dysplasia and osteosclerosis of all long bones, with heavy cortical bone and narrowed or occluded marrow spaces. There have been no further descriptions in the literature since 1977.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99792/","orphanet_url":"https://www.orpha.net/en/disease/detail/99792","names":{"fr":{"name":"Syndrome de dysplasie de la dentine-ostéosclérose","definition":"Maladie odontologique génétique rare, caractérisée par des signes cliniques, radiologiques et histologiques de dysplasie de la dentine et d'ostéosclérose de tous les os longs, avec un épaississement de leur couche corticale et un rétrécissement ou une fermeture des espaces de la cavité médullaire. Aucun cas n'a été décrit dans la littérature depuis 1977."},"de":{"name":"Dentindysplasie-Knochensklerose-Syndrom"},"es":{"name":"Síndrome de displasia de la dentina-huesos escleróticos","definition":"El síndrome de displasia de la dentina - huesos escleróticos, es una enfermedad odontológica genética, poco frecuente, y caracterizada por las manifestaciones clínicas, radiológicas e histológicas típicas de la displasia de la dentina, y osteosclerosis de todos los huesos largos, con engrosamiento de hueso cortical y espacios medulares estrechados u ocluidos. No ha habido más casos descritos en la literatura desde 1977."},"it":{"name":"Sindrome da displasia della dentina e ossa sclerotiche","definition":"La sindrome che associa la displasia della dentina e le ossa sclerotiche è una malattia odontogena genetica rara, caratterizzata dai segni clinici e dalle caratteristiche radiografiche ed istologiche della displasia della dentina e dell'osteosclerosi delle ossa lunghe, che mostrano un ispessimento della corticale ed un restringimento o un'occlusione degli spazi midollari. Non sono stati descritti nuovi casi dopo il 1977."},"nl":{"name":"Dentinedysplasie - osteosclerose-syndroom","definition":"Dentinedysplasie - sclerotische botten-syndroom is een zeldzame, genetische odontologische ziekte die gekarakteriseerd wordt door de klinische, radiografische en histologische kenmerken van dentinedysplasie en osteosclerose van alle pijpbeenderen, met zwaar corticaal bot en versmalde of afgesloten beenmergruimtes. Sinds 1977 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de displasia da dentina-ossos escleróticos"},"pl":{"name":"Zespół dysplazji zębiny i sklerotyzacji kości","definition":"*Zespół dysplazji zębiny i sklerotyzacji kości jest rzadką, genetycznie uwarunkowaną chorobą odontologiczną, która charakteryzującą się klinicznymi, radiologicznymi i histologicznymi cechami dysplazji zębiny i osteosklerozy wszystkich długich kości, z pogrubieniem ich warstwy korowej i zwężeniem lub zamknięciem przestrzeniami jam szpikowych. Od 1977 roku nie ma nowych opisów w literaturze."},"cs":{"name":"Syndrom zahrnující dentinovou dysplázii a sklerotické kosti"},"uk":{"name":"Синдром дисплазії дентину-кісткового склерозу","definition":"Dentin dysplasia-sclerotic bones syndrome is a rare, genetic odontologic disease characterized by the clinical, radiographic, and histologic features of dentine dysplasia and osteosclerosis of all long bones, with heavy cortical bone and narrowed or occluded marrow spaces. There have been no further descriptions in the literature since 1977."},"zh":{"name":"牙本质发育不良-骨硬化综合征","definition":"牙本质发育不良-硬化骨综合征是一种罕见的遗传性牙科疾病，在临床表现、影像学和组织学上以牙本质发育不良和所有长骨的骨硬化为特征，伴有较重的皮质骨和狭窄或闭塞的骨髓间隙。自1977年以来，文献中就没有进一步的描述。"},"tr":{"name":"Dentin displazisi-sklerotik kemik sendromu"}},"xrefs":[{"source":"OMIM","code":"125440","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"K00.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA30.7","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0007438","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538213","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749611","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1808","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98026,"name":"Rare odontologic disease"},"parents":[{"orpha":98027,"name":"Rare disease with odontological manifestation","classifications":[197]},{"orpha":77830,"name":"Rare genetic odontologic disease","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"264650[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_264650[PMID]"}],"phenotypes":null}