{"orpha":178377,"name":"Osteosclerosis-developmental delay-craniosynostosis syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-178377/","orphanet_url":"https://www.orpha.net/en/disease/detail/178377","names":{"fr":{"name":"Syndrome d'ostéosclérose-retard de développement-craniosynostose","definition":"Ce rare syndrome, de description récente, est caractérisé par une ostéosclérose, un retard de développement et une crâniosynostose."},"de":{"name":"Osteosklerose-Entwicklungsverzögerung-Kraniosynostose-Syndrom","definition":"Dieses kürzlich beschriebene Syndrom ist gekennzeichnet durch Osteosklerose, Entwicklungsverzögerung und Kraniosynostose (s. dort)."},"es":{"name":"Síndrome de osteoesclerosis-retraso del desarrollo-craneosinostosis","definition":"Este síndrome, descrito recientemente, se caracteriza por: osteosclerosis, retraso psicomotor y craneosinostosis."},"it":{"name":"Osteosclerosi - ritardo dello sviluppo - craniosinostosi","definition":"Questa sindrome, descritta di recente, è caratterizzata da osteosclerosi, ritardo dello sviluppo e craniosinostosi (si veda questo termine)."},"nl":{"name":"Osteosclerose - ontwikkelingsachterstand - craniosynostose","definition":"Een syndroom, gekenmerkt door osteosclerose, ontwikkelingsachterstand en craniosynostose."},"pt":{"name":"Síndrome de osteosclerose-perturbação do desenvolvimento-craniossinostose","definition":"Esta síndrome recentemente descrita é caracterizada por osteosclerose, atraso de desenvolvimento e craniossinostose (ver este termo)."},"pl":{"name":"Osteoskleroza- opóźnienie rozwoju - kraniosynostoza"},"cs":{"name":"Syndrom zahrnující osteosklerózu, opožděný vývoj a kraniosynostózu"},"uk":{"name":"Синдром остеосклерозу-затримки розвитку-краніосиностозу","definition":"This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis (see this term)."},"zh":{"name":"骨硬化-发育迟缓-颅缝早闭综合征","definition":"骨硬化病-发育迟滞-颅缝早闭综合征是一种以骨硬化病、发育迟滞和颅缝早闭（见该术语）为特征的新型综合征。"},"tr":{"name":"Osteoskleroz-gelişme geriliği-kraniyosinostoz sendromu"}},"xrefs":[{"source":"ICD-10","code":"Q75.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1242678204"},{"source":"MONDO","code":"0015800","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4302818","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":139393,"name":"Syndromic craniosynostosis","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"LRP5","name":"LDL receptor related protein 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"15940380[PMID]","hgnc":"6697","ensembl":"ENSG00000162337","omim":"603506","loci":["11q13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":13.0,"area":"Worldwide","status":"Validated","source":"15940380[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_15940380[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012802","label":"Broad jaw","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011001","label":"Increased bone mineral density","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002684","label":"Thickened calvaria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010628","label":"Facial palsy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002516","label":"Increased intracranial pressure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011342","label":"Mild global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Occasional (29-5%)","criteria":null}]}}