{"orpha":443098,"name":"Hyperostosis cranialis interna","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare primary bone dysplasia with increased bone density characterized by slowly progressive endosteal hyperostosis and osteosclerosis exclusively of the skull base and the calvaria, resulting in entrapment and dysfunction of cranial nerves I, II, V, VII, and VIII. First symptoms often appear during the second decade of life and include disturbances in smell, vision, facial sensation and expression, hearing, and balance, as well as headaches due to increased ocular and intracranial pressure. After the fourth decade, radiological progression is minimal, although decreased intracranial volume can lead to death in severe cases.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-443098/","orphanet_url":"https://www.orpha.net/en/disease/detail/443098","names":{"fr":{"name":"Hyperostose crânienne interne","definition":"Dysplasie osseuse primaire rare avec augmentation de la densité osseuse, caractérisée par une hyperostose endostéale lentement progressive et une ostéosclérose exclusivement de la base du crâne et de la calvaire, entraînant le piégeage et le dysfonctionnement des nerfs crâniens I, II, V, VII et VIII. Les premiers symptômes apparaissent souvent au cours de la deuxième décennie de la vie et comprennent des troubles de l'odorat, de la vision, de la sensation et de l'expression faciales, de l'audition et de l'équilibre, ainsi que des maux de tête dus à une augmentation de la pression oculaire et intracrânienne. Après la quatrième décennie, la progression radiologique est minime, bien que la diminution du volume intracrânien puisse être fatale dans les cas graves."},"de":{"name":"Hyperostosis cranialis interna","definition":"Eine seltene primäre Knochendysplasie mit erhöhter Knochendichte, die durch eine langsam fortschreitende endostale Hyperostose und Osteosklerose ausschließlich der Schädelbasis und der Schädelkalotte gekennzeichnet ist und zu einer Einklemmung und Funktionsstörung der Hirnnerven I, II, V, VII und VIII führt. Die ersten Symptome treten häufig im zweiten Lebensjahrzehnt auf und umfassen Störungen des Geruchssinns, des Sehens, der Gesichtsempfindung und -mimik, des Hörens und des Gleichgewichts sowie Kopfschmerzen aufgrund eines erhöhten Augen- und Hirndrucks. Nach dem vierten Lebensjahrzehnt ist die radiologische Progression minimal, obwohl die Abnahme des intrakraniellen Volumens in schweren Fällen zum Tod führen kann."},"es":{"name":"Hiperostosis craneal interna","definition":"Es una displasia ósea primaria poco frecuente con aumento de la densidad ósea que se caracteriza por hiperostosis endóstica lentamente progresiva y osteoesclerosis de la base del cráneo y la calota exclusivamente, y que resulta en atrapamiento y disfunción de los pares craneales I, II, V, VII y VIII. Los primeros síntomas suelen aparecer durante la segunda década de la vida e incluyen alteraciones olfativas, visuales, auditivas y del equilibrio así como de la sensibilidad y de la expresión faciales y cefaleas debido al aumento de la presión ocular e intracraneal. Después de la cuarta década de vida, la progresión radiológica es mínima, aunque la disminución del volumen intracraneal puede provocar la muerte en casos graves."},"it":{"name":"Iperostosi interna del cranio","definition":"Si tratta di una displasia scheletrica primitiva rara associata ad un aumento della densità delle ossa, caratterizzata da iperostosi endostale a progressione lenta e osteosclerosi che interessa esclusivamente la base e la volta del cranio, con conseguente intrappolamento e disfunzione dei nervi cranici I, II, V, VII e VIII. Spesso i sintomi d'esordio si manifestano nella seconda decade di vita e comprendono le anomalie dell'olfatto, della vista, della sensibilità e dell'espressione facciale, dell'udito e dell'equilibrio, e la cefalea secondaria ad un aumento della pressione oculare e intracranica. Dopo la quarta decade, le radiografie mostrano una progressione minima ma, nei casi più gravi, la diminuzione del volume intracranico può causare la morte."},"nl":{"name":"Hyperostosis cranialis interna","definition":"Een zeldzame primaire botdysplasie met verhoogde botdensiteit, gekarakteriseerd door traag progressieve endosteale hyperostose en osteosclerose van uitsluitend schedelbasis en schedeldak, wat resulteert in beknelling en disfunctie van hersenzenuwen I, II, V, VII en VIII. De eerste symptomen verschijnen vaak in het tweede levensdecennium en omvatten verstoring van reukzin, zicht, gezichtssensatie en -uitdrukking, gehoor, en evenwicht, alsook hoofdpijn door verhoogde oculaire en intracraniële druk. Na het vierde levensdecennium is radiologische progressie minimaal, hoewel verminderd intracraniaal volume in ernstige gevallen kan leiden tot overlijden."},"pt":{"name":"Hiperostose craniana interna"},"pl":{"name":"Hiperostoza wewnątrzczaszkowa"},"cs":{"name":"Nitrolební hyperostóza","synonyms":["Hyperostosis cranialis interna"]},"uk":{"name":"Внутрішній черепний гіперостоз","definition":"A rare primary bone dysplasia with increased bone density characterized by slowly progressive endosteal hyperostosis and osteosclerosis exclusively of the skull base and the calvaria, resulting in entrapment and dysfunction of cranial nerves I, II, V, VII, and VIII. First symptoms often appear during the second decade of life and include disturbances in smell, vision, facial sensation and expression, hearing, and balance, as well as headaches due to increased ocular and intracranial pressure. After the fourth decade, radiological progression is minimal, although decreased intracranial volume can lead to death in severe cases."},"zh":{"name":"内侧颅骨增生","definition":"罕见的原发性骨发育不良合并骨密度增高，其特征是仅在颅底和颅盖处缓慢进行性骨内增生和硬化，导致颅神经I，II，V，VII和VIII的内陷和功能障碍。最初的症状通常在20岁左右出现，包括嗅觉，视力，面部感觉和表情，听力和平衡障碍，以及由于眼压和颅内压升高而引起的头痛。在40岁之后影像学能检测到的变化很小，但严重病病可能会出现因颅内体积减少导致的死亡。"},"tr":{"name":"Hiperostoz kafatası interna"}},"xrefs":[{"source":"OMIM","code":"144755","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"M85.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"FB80.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0007765","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564168","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1840404","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]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":13.0,"area":"Worldwide","status":"Validated","source":"20140965[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20140965[PMID]"}],"phenotypes":null}