{"orpha":391327,"name":"X-linked calvarial hyperostosis","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare, genetic, primary bone dysplasia with increased bone density disorder characterized by benign, isolated, calvarial thickening, presenting with prominent frontoparietal bones, a high forehead with ridging of the metopic and sagittal sutures, lateral frontal prominences, and facial dysmorphism comprising a flat nasal root and short, upturned nose. Increased intracranial pressure and cranial nerve entrapment are not associated. There have been no further descriptions in the literature since 1986.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-391327/","orphanet_url":"https://www.orpha.net/en/disease/detail/391327","names":{"fr":{"name":"Hyperostose de la voûte crânienne liée à l'X","definition":"Dysplasie osseuse primaire condensante rare d'origine génétique, caractérisée par un épaississement bénin et isolé de la voûte crânienne, se manifestant par des os frontopariétaux proéminents, un front haut avec des sutures sagittale et métopique striées, une proéminence frontale latérale et une dysmorphie faciale à type de racine nasale plate et courte et de nez retroussé. Aucune augmentation de la pression intracrânienne et aucune compression des nerfs crâniens ne sont associées. Aucun cas n'a été décrit dans la littérature depuis 1986."},"de":{"name":"X-chromosomale Hyperostose der Schädelkalotte"},"es":{"name":"Hiperostosis calvaria ligada al cromosoma X","definition":"La hiperostosis calvaria ligada al cromosoma X es un trastorno de displasia ósea primaria, genética y poco frecuente, con aumento de la densidad ósea. Se caracteriza por un engrosamiento aislado y benigno de la calvaria, que se presenta con huesos frontoparietales prominentes, frente alta con surcos en las suturas metópicas y sagitales, prominencias frontales laterales, y dismorfia facial que comprende raíz nasal plana y nariz corta y respingona. No se asocia incremento de la presión intracraneal ni compresión del nervio craneal. No ha habido más casos descritos en la literatura desde 1986."},"it":{"name":"Iperostosi del cuoio capelluto legata all'X","definition":"L'iperostosi della volta cranica legata all'X è una displasia scheletrica primitiva genetica rara, associata ad un aumento della densità ossea, caratterizzata da un ispessimento benigno isolato del calvario, che si manifesta con la prominenza delle ossa fronto-parietali, fronte alta con cresta metopica e sagittale, prominenze frontali laterali e dismorfismi facciali (radice nasale piatta e naso corto con punta rivolta verso l'alto). Non si associa ad un aumento della pressione intracranica o ad intrappolamento dei nervi cranici. Non sono stati descritti nuovi casi dopo il 1986."},"nl":{"name":"X-gebonden hyperostose van calvaria","synonyms":["X-gebonden hyperostose van schedeldak"],"definition":"X-gebonden hyperostose van het schedeldak is een zeldzame, genetische, primaire botdysplasie met verhoogde botdensiteit, en wordt gekarakteriseerd door goedaardige, geïsoleerde verdikking van het schedeldak die zich manifesteert met uitgesproken frontopariëtale botten, een hoog voorhoofd met verdikte richels aan de metopische en sagittale suturen, laterale frontale uitsteeksels, en faciale dysmorfie bestaande uit een platte neuswortel en een korte wipneus. Verhoogde intracraniële druk en beklemming van hersenzenuwen zijn niet geassocieerd. Sinds 1986 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Hiperostose calvária, ligada ao cromossoma X"},"pl":{"name":"Hiperostoza sklepienia czaszki sprzężona z chromosomem X","definition":"*Hiperostoza sklepienia czaszki sprzężona z chromosomem X jest rzadką, genetycznie uwarunkowaną, pierwotną dysplazją kości, która przebiega ze zwiększoną gęstości kości i charakteryzuje się łagodnym, izolowanym zgrubieniem sklepienia czaszki, co objawia się wydatnymi kośćmi czołowo-ciemieniowymi, wysokim czołem z wyraźnie zaznaczonym szwem czołowym i strzałkowym, bocznymi wypukłościami czołowymi i dysmorfą twarzy obejmującą płaską nasadę nosa i krótki, zadarty nos. Nie dochodzi natomiast do wzrostu ciśnienia wewnątrzczaszkowego lub ucisku na nerwy czaszkowe. Od 1986 roku w literaturze nie ma nowych opisów."},"cs":{"name":"X-vázaná hyperostóza lebky"},"uk":{"name":"Х-зчеплений гіперостоз пяткової кістки","definition":"A rare, genetic, primary bone dysplasia with increased bone density disorder characterized by benign, isolated, calvarial thickening, presenting with prominent frontoparietal bones, a high forehead with ridging of the metopic and sagittal sutures, lateral frontal prominences, and facial dysmorphism comprising a flat nasal root and short, upturned nose. Increased intracranial pressure and cranial nerve entrapment are not associated. There have been no further descriptions in the literature since 1986."},"zh":{"name":"X连锁颅骨骨质增生症","definition":"X-连锁颅骨增生症是一种罕见的遗传性原发性骨发育不良，其特征为良性、孤立的颅骨增厚，表现为额顶骨突出、高额头伴横缝和矢状缝隆起、额侧隆起，面部畸形（包括扁平的鼻根和短而上翘的鼻子）。颅内压升高与颅神经卡压与本病无关。自1986年以来，文献中没有进一步的描述。"},"tr":{"name":"X'e bağlı kalvaryal hiperostoz"}},"xrefs":[{"source":"OMIM","code":"302030","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":"0010541","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190611","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1058","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":[],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"24145306[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}