{"orpha":85192,"name":"Calvarial doughnut lesions-bone fragility syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Familial doughnut lesions of skull"],"definition":"A rare primary bone dysplasia with decreased bone density disorder characterized by multiple doughnut-shaped hyperostotic or osteosclerotic calvarial lesions (manifesting with cranial lumps) associated with numerous pathologic fractures, elevated serum alkaline phosphatase levels and osteopenia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85192/","orphanet_url":"https://www.orpha.net/en/disease/detail/85192","names":{"fr":{"name":"Syndrome de lésions en anneau de la voûte crânienne-fragilité osseuse","synonyms":["Lésions familiales en anneau du crâne"],"definition":"Dysplasie osseuse primaire rare avec hypodensité osseuse, caractérisée par la présence sur la calotte crânienne de nombreuses lésions hyperostotiques ou ostéosclérotiques en forme d'anneaux (se manifestant par des bosses crâniennes), associée à de nombreuses fractures pathologiques, des taux sériques élevés de phosphatases alcalines et une ostéopénie."},"de":{"name":"Doughnut-förmige Läsionen der Schädelkalotte-Knochenfragilität-Syndrom","definition":"Eine seltene primäre Knochendysplasie mit verminderter Knochendichte, die sich durch multiple doughnutförmige hyperostotische oder osteosklerotische Kalvarialläsionen (die sich durch kraniale Knoten manifestieren) auszeichnet, die mit zahlreichen pathologischen Frakturen, erhöhten alkalischen Phosphatasewerten im Serum und Osteopenie einhergehen."},"es":{"name":"Síndrome de lesiones en anillo del cuero cabelludo-fragilidad ósea","synonyms":["Lesiones en anillo del cráneo-fragilidad de los huesos"],"definition":"Es una displasia ósea primaria poco frecuente con disminución de la densidad ósea caracterizada por múltiples lesiones hiperostóticas u osteoescleróticas de la bóveda craneal en forma de anillo (que se manifiestan con protuberancias craneales) asociadas a numerosas fracturas patológicas, niveles elevados de fosfatasa alcalina sérica y osteopenia."},"it":{"name":"Sindrome lesioni ad anello della volta cranica-fragilità ossea","synonyms":["Lesioni ad anello del cranio, forma familiare"],"definition":"Si tratta di una displasia scheletrica primitiva rara, associata ad una riduzione della densità ossea, caratterizzata da lesioni multiple della volta cranica a forma di anello, iperostotiche o osteosclerotiche (che si manifestano sotto forma di noduli cranici), associate a numerose fratture patologiche, a livelli elevati di fosfatasi alcalina nel siero, e ad osteopenia."},"nl":{"name":"Donutlaesies van calvaria - botfragiliteit-syndroom","synonyms":["Donutlaesies van schedeldak - botfragiliteit-syndroom","Familiale donutlaesies van schedel"],"definition":"Een zeldzame primaire botdysplasie met verminderde botdensiteit, gekarakteriseerd door meervoudige donut-vormige hyperostotische of osteosclerotische laesies van calvaria (die zich manifesteren met knobbels op de schedel), geassocieerd met talloze pathologische fracturen, verhoogd gehalte van alkalische fosfatase in serum en osteopenie."},"pt":{"name":"Lesões do calvário em forma de donut - fragilidade óssea"},"pl":{"name":"Ubytki w sklepieniu czaszki typu \"doughnut\" - kruchość kości","synonyms":["Rodzinne ubytki w czaszce typu \"dougnut"]},"cs":{"name":"Syndrom zahrnující léze na lebce tvaru koblih a křehkost kostí","synonyms":["Familiární léze lebky tvaru koblih"]},"uk":{"name":"Ураження Calvarial Doughnut- синдром ламкості кісток","synonyms":["Сімейні пончикові ураження черепа"],"definition":"A rare primary bone dysplasia with decreased bone density disorder characterized by multiple doughnut-shaped hyperostotic or osteosclerotic calvarial lesions (manifesting with cranial lumps) associated with numerous pathologic fractures, elevated serum alkaline phosphatase levels and osteopenia."},"zh":{"name":"颅骨环形损伤-骨脆性增加综合征","synonyms":["家族性颅骨环形损伤"]},"tr":{"name":"Kalvariyal donut lezyonları-kemik kırılganlık sendromu","synonyms":["Kafatasının ailesel halka lezyonları"]}},"xrefs":[{"source":"OMIM","code":"126550","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q78.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.KY","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1915423876"},{"source":"MONDO","code":"0007470","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565089","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1852022","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93446,"name":"Primary bone dysplasia with decreased bone density","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":20.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}