{"orpha":293925,"name":"Lethal occipital encephalocele-skeletal dysplasia syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Lethal occipital encephalocele-skeletal dysplasia syndrome is a rare, genetic, bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-293925/","orphanet_url":"https://www.orpha.net/en/disease/detail/293925","names":{"fr":{"name":"Syndrome létal d'encéphalocèle occipital-dysplasie squelettique","definition":"Anomalie rare du développement osseux d'origine génétique, caractérisée par une hypoplasie de l'os pariétal et de l'os occipital à l'origine d'un encéphalocèle occipital, un défaut de minéralisation de la voûte crânienne, une craniosynostose, une fusion du radius et de l'humérus, une oligodactylie et d'autres anomalies squelettiques (arachnodactylie, aplasie des phalanges terminales des pouces, absence bilatérale des gros orteils, angulation bilatérale prononcée du fémur, membres courts, maturation osseuse avancée). Ce syndrome est associé à une mort foetale <i>in utero</i>."},"de":{"name":"Letal okzipitale Enzephalozele-Skelettdysplasie-Syndrom"},"es":{"name":"Síndrome letal de encefalocele occipital-displasia esquelética","definition":"El síndrome letal de encefalocele occipital - displasia esquelética es un trastorno del desarrollo óseo, genético y poco frecuente, caracterizado por hipoplasia ósea parietal y occipital que conduce a encefalocele occipital, defectos de la mineralización ósea craneal, craneosinostosis, fusión radiohumeral, oligodactilia y otras anomalías esqueléticas (aracnodactilia, aplasia de las falanges distales de los pulgares, ausencia bilateral del dedo gordo del pie, fémures con angulación bilateral pronunciada, extremidades acortadas, maduración ósea avanzada). Lleva asociada la muerte fetal <i>in utero</i>."},"it":{"name":"Sindrome letale da encefalocele occipitale e displasia scheletrica","definition":"La sindrome letale che associa l'encefalocele occipitale e la displasia scheletrica è una malattia genetica rara dello sviluppo delle ossa, caratterizzata da ipoplasia dell'osso occipitale e parietale, con conseguente encefalocele occipitale, difetti della mineralizzazione della volta cranica, craniosinostosi, fusioni del radio e dell'omero, oligodattilia ed altre anomalie scheletriche (aracnodattilia, aplasia delle falangi terminali dei pollici, aplasia bilaterale degli alluci, marcata angolazione bilaterale dei femori, accorciamento degli arti, età ossea avanzata). Si tratta di una condizione letale in utero."},"nl":{"name":"Letale occipitale encefalocele - skeletdysplasie-syndroom","definition":"Letale occipitale encefalocèle - skeletdysplasie-syndroom is een zeldzame, genetische stoornis van de botontwikkeling, en wordt gekarakteriseerd door hypoplasie van de occipitale en pariëtale botten die leidt tot occipitale encefalocèle, mineralisatiedefecten van het schedeldak, craniosynostose, radiohumerale fusies, oligodactylie en andere skeletanomalieën (arachnodactylie, terminale falangeale aplasie van de duimen, bilaterale afwezigheid van de grote tenen, uitgesproken bilaterale angulatie van de dijbeenderen, korte ledematen, gevorderde botmaturatie). Foetaal overlijden <i>in utero</i> is geassocieerd."},"pt":{"name":"Síndrome letal de encefalocelo occipital-displasia esquelética"},"pl":{"name":"Śmiertelny zespół przepuklina mózgowa potyliczna-dysplazja szkieletowa"},"cs":{"name":"Syndrom zahrnující okcipitální encefalokélu a kosterní dysplázii, letální varianta"},"uk":{"name":"Летальний синдром потиличного енцефалоцеле-скелетної дисплазії","definition":"Lethal occipital encephalocele-skeletal dysplasia syndrome is a rare, genetic, bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated."},"zh":{"name":"致死性枕脑膨出-骨骼发育不良综合征","definition":"致命性枕部脑疝-骨骼发育不良综合征是一种罕见的遗传性骨发育障碍，其特征是枕骨和顶骨发育不良导致枕部脑疝、颅顶矿化缺损、颅缝早闭、桡肱骨融合、少指（趾）畸形和其他骨骼异常（细长指(趾)、拇指末端指骨发育不良，双侧大脚趾缺如，双侧股骨明显成角，短四肢，骨成熟提前）。与宫内胎儿死亡相关。"},"tr":{"name":"Letal oksipital ensefalosel-iskelet displazisi sendromu"}},"xrefs":[{"source":"OMIM","code":"614416","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013740","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4751129","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":"CYP26B1","name":"cytochrome P450 family 26 subfamily B member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"22019272[PMID]","hgnc":"20581","ensembl":"ENSG00000003137","omim":"605207","loci":["2p13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"27410456[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27410456[PMID]"}],"phenotypes":null}