{"orpha":324364,"name":"Mixed sclerosing bone dystrophy with extra-skeletal manifestations","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic, primary bone dysplasia with increased bone density disorder characterized by bone abnormalities, including metaphyseal plaques, osteopathia striata, marked cranial sclerosis, and sclerosis of the ribs and long bones, as well as macrocephaly, cleft palate, hearing loss, developmental delay, and facial dysmorphism (hypertelorism, prominent forehead, wide nasal bridge). Hypotonia, tracheo-/laryngomalacia, and astigmatic myopia are also associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-324364/","orphanet_url":"https://www.orpha.net/en/disease/detail/324364","names":{"fr":{"name":"Dystrophie osseuse sclérosante mixte avec manifestations extra-squelettiques","definition":"Dysplasie osseuse primaire condensante rare d'origine génétique, caractérisée par des anomalies osseuses, notamment des plaques métaphysaires, une ostéopathie striée, une sclérose crânienne marquée et une sclérose des côtes et des os longs, ainsi que par une macrocéphalie, une fente palatine, une perte auditive, un retard de développement et une dysmorphie faciale (hypertélorisme, front proéminent, pont nasal large). L'hypotonie, la trachéolaryngomalacie et la myopie avec l'astigmatisme sont également associés."},"de":{"name":"Gemischte sklerosierende Knochendystrophie mit extraskelettalen Manifestationen"},"es":{"name":"Distrofia ósea esclerosante mixta con manifestaciones extraesqueléticas","definition":"Es una displasia ósea primaria, genética y poco frecuente, acompañada de un aumento de la densidad ósea. Está caracterizada por anomalías óseas que incluyen placas metafisarias, osteopatía estriada, marcada esclerosis craneal y esclerosis en costillas y huesos largos, así como macrocefalia, paladar hendido, pérdida auditiva, retraso del desarrollo y dismorfia facial (hipertelorismo, frente prominente, puente nasal ancho). También se asocia hipotonía, traqueo / laringomalacia y miopía astigmática."},"it":{"name":"Distrofia ossea sclerosante mista con manifestazioni extrascheletriche","definition":"È una displasia scheletrica primitiva rara, di origine genetica associata ad un aumento della densità ossea. È caratterizzata da anomalie scheletriche (con placche metafisarie, osteopatia striata, sclerosi cranica marcata e sclerosi delle costole e delle ossa lunghe), macrocefalia, palatoschisi, sordità, ritardo dello sviluppo e dismorfismi facciali (ipertelorismo, fronte prominente, sella nasale ampia). Inoltre, i pazienti presentano ipotonia, tracheo-/laringo-malacia e miopia astigmatica."},"nl":{"name":"Gemengde scleroserende botdystrofie met extra-skeletale manifestaties","definition":"Een zeldzame, genetische, primaire botdysplasie met verhoogde botdensiteit die gekarakteriseerd wordt door botanomalieën, waaronder metafysaire plaques, osteopathia striata, duidelijke craniale sclerose, en sclerose van de ribben en pijpbeenderen, alsook macrocefalie, gespleten verhemelte, gehoorverlies, ontwikkelingsachterstand, en faciale dysmorfie (hypertelorisme, groot voorhoofd, brede neusbrug). Hypotonie, tracheo-/laryngomalacie, en astigmatische myopie zijn ook geassocieerd."},"pt":{"name":"Distrofia óssea esclerosante mista com manifestações extra-esqueléticas"},"pl":{"name":"Mieszana stwardniająca dystrofia kości z objawami pozaszkieletowymi"},"cs":{"name":"Smíšená sklerozující kostní dystrofie s extraskeletálními manifestacemi"},"uk":{"name":"Змішана склерозуюча кісткова дистрофія з позаскелетними проявами","definition":"A rare, genetic, primary bone dysplasia with increased bone density disorder characterized by bone abnormalities, including metaphyseal plaques, osteopathia striata, marked cranial sclerosis, and sclerosis of the ribs and long bones, as well as macrocephaly, cleft palate, hearing loss, developmental delay, and facial dysmorphism (hypertelorism, prominent forehead, wide nasal bridge). Hypotonia, tracheo-/laryngomalacia, and astigmatic myopia are also associated."},"zh":{"name":"混合性硬化性骨营养不良伴骨外表现","definition":"一种罕见的遗传性原发性骨发育不良，伴有骨密度增加，以骨异常为特征，包括干骺端斑块、纹状体骨病、明显的颅骨硬化、肋骨和长骨硬化，以及巨颅畸形、腭裂、听力损失、发育迟缓和面部畸形(眼距过宽、前额突出、宽鼻梁)。张力减退、气管/喉软化症和散光性近视也与之相关。"},"tr":{"name":"İskelet dışı belirtiler ile seyreden karma sklerozan kemik distrofisi"}},"xrefs":[{"source":"ICD-10","code":"Q87.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.1Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017930","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5191052","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":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"22821701[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_22821701[PMID]"}],"phenotypes":null}