{"orpha":620178,"name":"Non-syndromic bilambdoid craniosynostosis","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Isolated bilambdoid craniosynostosis","Isolated pachycephaly","Non-syndromic bilateral lambdoid synostosis"],"definition":"A form of non-syndromic multisutural craniosynostosis characterized by bilateral premature fusion of the lambdoid sutures, resulting in flattening and widening of the entire occipital region, with compensatory bossing of the vertex region (giving the cranium an elongated shape), and anterior-posterior displacement of the ears.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-620178/","orphanet_url":"https://www.orpha.net/en/disease/detail/620178","names":{"fr":{"name":"Craniosynostose lambdoïde bilatérale non syndromique","synonyms":["Craniosynostose bilambdoïde non syndromique","Craniosynostose lambdoïde bilatérale isolée"],"definition":"Forme de craniosynostose unisuturaire non syndromique caractérisée par une fusion prématurée de l'une des deux sutures lambdoïdes, entraînant un aplatissement occipito-pariétal du même côté, un bombement pariétal et frontal controlatéral, un renflement occipito-mastoïdien et un déplacement postéro-inférieur de l'oreille du même côté. Le crâne présente un aspect trapézoïdal vu de dessus, tandis que le visage est généralement en forme de C avec une convexité du même côté."},"de":{"name":"Kraniosynostose, bilambdoide, nicht-syndromale","synonyms":["Bilaterale lambdoidale Synostose, nicht-syndromale","Isolierte Pachyzephalie","Isolierte bilambdoide Kraniosynostose"],"definition":"Eine Form der nicht-syndromalen multisuturalen Kraniosynostose, die durch eine beidseitige vorzeitige Fusion der Lambdanähte gekennzeichnet ist, was zu einer Abflachung und Verbreiterung der gesamten Okzipitalregion führt, mit kompensatorischer Verdickung der Scheitelregion (was dem Schädel eine verlängerte Form verleiht) und einer Verschiebung der Ohren nach vorne und hinten."},"es":{"name":"Craneosinostosis bilambdoidea no sindrómica","synonyms":["Craneosinostosis bilambdoidea aislada","Paquicefalia aislada","Sinostosis lambdoidea bilateral no sindrómica"],"definition":"Es una forma de craneosinostosis multisutural no sindrómica caracterizada por la fusión prematura bilateral de las suturas lambdoideas, lo que resulta en aplanamiento y ensanchamiento de toda la región occipital, con protuberancia compensatoria de la región del vértice (dando al cráneo una forma alargada) y desplazamiento anteroposterior de las orejas."},"it":{"name":"Craniosinostosi lambdoidea bilaterale non sindromica","synonyms":["Craniosinostosi lambdoidea isolata","Craniosinostosi lambdoidea non sindromica","Pachicefalia isolata"]},"nl":{"name":"Niet-syndromale bilambdoïde craniosynostose","synonyms":["Geïsoleerde bilambdoïde craniosynostose","Geïsoleerde pachycefalie","Niet-syndromale bilaterale lambdoïde synostose","Niet-syndromale bilaterale synostose van lambdanaad","Niet-syndromale bilaterale synostose van sutura lambdoidea"],"definition":"Een vorm van niet-syndromale multisuturale craniosynostose, gekenmerkt door bilaterale premature fusie van de lambdanaden (sutura lambdoidea), wat resulteert in afplatting en verbreding van de gehele occipitale regio, met compenserende bolling van de regio van de kruin (waardoor de schedel een langwerpige vorm krijgt), en anterieure-posterieure verplaatsing van de oren."},"pt":{"name":"Craniossinostose bilambdóide não-sindromática","synonyms":["Craniossinostose bilambdóide isolada","Paquicefalia isolada","Sinostose lambdóide bilateral não-sindromática"]},"pl":{"name":"Niesyndromiczna kraniosynostoza obejmująca oba szwy węgłowe","synonyms":["Isolated bilambdoid craniosynostosis","Isolated pachycephaly","Non-syndromic bilateral lambdoid synostosis"],"definition":"Forma niesyndromicznej kraniosynostozy charakteryzująca się obustronnym przedwczesnym zrośnięciem szwów węgłowych, co powoduje spłaszczenie i poszerzenie całej okolicy potylicznej, z kompensacyjnym uwypukleniem okolicy szczytowej (co nadaje czaszce wydłużony kształt) oraz przednio-tylnym przemieszczeniem uszu."},"cs":{"name":"Nesyndromická bilambdoidní kraniosynostóza","synonyms":["Isolated bilambdoid craniosynostosis","Isolated pachycephaly","Non-syndromic bilateral lambdoid synostosis"]},"uk":{"name":"Несиндромальний біламбдоїдний краніосиностоз","synonyms":["Ізольований біламбдоїдний краніосиностоз","Ізольована пахіцефалія","Несиндромний двосторонній лямбдоподібний синостоз"]}},"xrefs":[{"source":"ICD-10","code":"Q75.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB70.0Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0850079","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680395","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":620152,"name":"Non-syndromic multisutural craniosynostosis","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}