{"orpha":2780,"name":"Osteopathia striata-cranial sclerosis syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Hyperostosis generalisata with striations","Robinow-Unger syndrome"],"definition":"Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2780/","orphanet_url":"https://www.orpha.net/en/disease/detail/2780","names":{"fr":{"name":"Syndrome d'ostéopathie striée-sclérose crânienne","synonyms":["Hyperostose généralisée striée","Syndrome de Robinow-Unger"],"definition":"L'ostéopathie striée - sclérose crânienne (OSSC) est une dysplasie osseuse caractérisée par des striations longitudinales des métaphyses des os longs, une sclérose des os crânio-faciaux, une macrocéphalie, une fente palatine et une perte auditive."},"de":{"name":"Osteopathia striata - kraniale Sklerose","definition":"Die Osteopathia striata mit kranialer Sklerose (OS-CS) ist eine Knochendysplasie und gekennzeichnet durch longitudinale Streifung der Metaphysen der langen Knochen, Sklerose der Schädel-und Gesichtsknochen, Makrozephalie, Gaumenspalte und Schwerhörigkeit."},"es":{"name":"Síndrome de osteopatía estriada-esclerosis craneal","definition":"La osteopatía estriada - esclerosis craneal (OS-CS) es una displasia ósea caracterizada por estriaciones longitudinales de la metáfisis de los huesos largos, esclerosis de los huesos craneofaciales, macrocefalia, paladar hendido y pérdida de audición."},"it":{"name":"Osteopatia striata - sclerosi cranica","synonyms":["Iperostosi generalizzata striata"],"definition":"L'osteopatia striata con sclerosi cranica (OS-CS) è una displasia scheletrica caratterizzata da striature longitudinali sulle metafisi delle ossa lunghe, sclerosi delle ossa craniofacciali, macrocefalia, palatoschisi e sordità."},"nl":{"name":"Osteopathia striata - craniale sclerose-syndroom","synonyms":["Gegeneraliseerde hyperostose met strepen","Syndroom van Robinow-Unger"],"definition":"Een botdysplasie, gekenmerkt door longitudinale strepen op metafysen van pijpbeenderen, sclerose van craniofaciale beenderen, macrocefalie, gespleten gehemelte, en gehoorverlies."},"pt":{"name":"Síndrome de osteopatia estriada-esclerose craniana","synonyms":["Hiperostose generalisada estriada"]},"pl":{"name":"Osteopathia striata - stwardnienie czaszki","synonyms":["Hiperostoza uogólniona z żłobieniami","Zespół Robinowa i Ungera"]},"cs":{"name":"Syndrom zahrnující osteopathia striata a kraniální sklerózu","synonyms":["Hyperostosis generalisata se striemi","Robinowův-Ungerové syndrom","Robinow-Ungerové syndrom"]},"uk":{"name":"Синдром остеопатії смугастої кістки - черепно-мозкового склерозу","synonyms":["Генералізований гіперостоз зі смугами","Синдром Робінова-Унгера"],"definition":"Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss."},"zh":{"name":"条纹状骨病-颅骨硬化综合征","synonyms":["全身性骨质增生伴条纹"]},"tr":{"name":"Osteopati striata-kraniyal skleroz sendromu","synonyms":["Robinow-Unger sendromu","Çizgili hiperostoz generalisata"]}},"xrefs":[{"source":"OMIM","code":"300373","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"182245528"},{"source":"MONDO","code":"0010310","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536053","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0432268","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4148","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":98038,"name":"Cranial malformation","classifications":[147]},{"orpha":183542,"name":"Genetic cranial malformation","classifications":[156]},{"orpha":2781,"name":"Osteopetrosis and related disorders","classifications":[147,156,199,233]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"CTNNB1","name":"catenin beta 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"38173341[PMID]","hgnc":"2514","ensembl":"ENSG00000168036","omim":"116806","loci":["3p22.1"]},{"symbol":"AMER1","name":"APC membrane recruitment protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19079258[PMID]","hgnc":"26837","ensembl":"ENSG00000184675","omim":"300647","loci":["Xq11.2"]}],"genes_via_subtypes":[],"inheritance":["X-linked dominant"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":100.0,"area":"Worldwide","status":"Validated","source":"15266607[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-06-26","source":"15266607[PMID]_19079258[PMID]","terms":[{"hpo":"HP:0000944","label":"Abnormal metaphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005465","label":"Facial hyperostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008808","label":"High iliac wings","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011001","label":"Increased bone mineral density","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008818","label":"Large iliac wings","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011002","label":"Osteopetrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100670","label":"Rough bone trabeculation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002684","label":"Thickened calvaria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000193","label":"Bifid uvula","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000270","label":"Delayed cranial suture closure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005469","label":"Flat occiput","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002705","label":"High, narrow palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000239","label":"Large fontanelles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000176","label":"Submucous cleft hard palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001650","label":"Aortic valve stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002381","label":"Aphasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001555","label":"Asymmetry of the thorax","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002514","label":"Cerebral calcification","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001680","label":"Coarctation of aorta","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010529","label":"Echolalia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010628","label":"Facial palsy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012368","label":"Flat face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003307","label":"Hyperlordosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002300","label":"Mutism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003510","label":"Severe short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003298","label":"Spina bifida occulta","frequency":"Occasional (29-5%)","criteria":null}]}}