{"orpha":2763,"name":"Osteocraniostenosis","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Gracile bone dysplasia","Osteocraniosplenic syndrome"],"definition":"Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2763/","orphanet_url":"https://www.orpha.net/en/disease/detail/2763","names":{"fr":{"name":"Ostéocraniosténose","synonyms":["Syndrome des os graciles","Syndrome ostéocraniosplénique"],"definition":"Dysplasie squelettique létale caractérisée par une anomalie crânienne dite en feuille de trèfle, une dysmorphie faciale, des membres courts, une aplasie/hypoplasie splénique et des anomalies radiologiques associant des os tubulaires fins avec des métaphyses élargies et un défaut de minéralisation du crâne."},"de":{"name":"Osteokraniostenose","synonyms":["Grazile-Knochen-Dysplasie","Osteokraniosplenisches Syndrom"],"definition":"Die Osteokraniostenose ist eine letale Skelettdysplasie und gekennzeichnet durch die Kleeblattschädel-Anomalie, faziale Dysmorphien, kurze Gliedmassen, Milz-Hypoplasie oder -Aplasie und radiologische Auffälligkeiten, darunter Röhrenknochen mit ausgeweiteten Metaphysen und mangelhafte Mineralisierung des Schädeldaches."},"es":{"name":"Osteocraneoestenosis","synonyms":["Displasia con huesos gráciles","Síndrome osteo-cráneo-esplénico"],"definition":"La osteocraneoestenosis es una displasia esquelética letal, caracterizada por cráneo en hoja de trébol, dismorfismo facial, miembros más cortos, hipo/aplasia esplénica y anomalías radiológicas, que incluyen huesos tubulares delgados con metáfisis ensanchadas y mineralización deficiente de la bóveda craneal (hueso calvario)."},"it":{"name":"Osteocraniostenosi","synonyms":["Displasia con ossa gracili","Sindrome osteo-cranio-splenica"],"definition":"L'osteocraniostenosi è una displasia scheletrica letale caratterizzata da cranio a trifoglio, dismorfismi facciali, brevità degli arti, ipo/aplasia della milza e anomalie radiologiche, che comprendono ossa tubolari sottili con metafisi allargate e carente mineralizzazione del cranio."},"nl":{"name":"Osteocraniostenose","synonyms":["Dysplasie met dunne botten","Osteocraniosplenisch syndroom"],"definition":"Osteocraniostenose is een dodelijke skeletdysplasie gekenmerkt door een klaverbladschedel, dysmorfie van het gelaat, korte ledematen, hypoplasie/aplasie van de milt en radiologische afwijkingen, waaronder dunne pijpbeenderen met verbreding van de metafysen en gebrekkige mineralisatie van het schedeldak."},"pt":{"name":"Osteocranioestenose"},"pl":{"name":"Osteokraniostenoza","synonyms":["Dysplazja wiotkich kości","Zespół kostno-czaszkowo-śledzionowy"]},"cs":{"name":"Osteokraniostenóza","synonyms":["Dysplázie gracilních kostí","Osteokraniosplenický syndrom"]},"uk":{"name":"Остеокраніостеноз","synonyms":["Грацильна дисплазія кісток","Остеокраніоспленічний синдром"],"definition":"Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization."},"zh":{"name":"狭颅症","synonyms":["骨颅脾综合征"]},"tr":{"name":"Osteokraniostenoz","synonyms":["Grasil kemik displazisi","Osteokraniyosplenik sendrom"]}},"xrefs":[{"source":"OMIM","code":"602361","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.D","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"539409723"},{"source":"MONDO","code":"0011215","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537291","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1865639","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3396","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":93440,"name":"Slender bone dysplasia","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"FAM111A","name":"FAM111 trypsin like peptidase A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23684011[PMID]","hgnc":"24725","ensembl":"ENSG00000166801","omim":"615292","loci":["11q12.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":30.0,"area":"Worldwide","status":"Validated","source":"12210352[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}