{"orpha":620113,"name":"Non-syndromic unilambdoid craniosynostosis","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Isolated occipital plagiocephaly","Isolated unilamboid craniosynostosis","Non-syndromic posterior synostotic plagiocephaly","Non-syndromic unilateral lambdoid synostosis"],"definition":"A form of non-syndromic unisutural craniosynostosis characterized by premature fusion of one of the two lambdoid sutures, resulting in ipsilateral occipitoparietal flattening, contralateral parietal and frontal bossing, occipitomastoid bulge, and posterior-inferior displacement of the ipsilateral ear. The skull appears trapezoid from above, while the face is typically C-shaped with ipsilateral convexity.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-620113/","orphanet_url":"https://www.orpha.net/en/disease/detail/620113","names":{"fr":{"name":"Craniosynostose lambdoïde unilatérale non syndromique","synonyms":["Craniosynostose unilambdoïde non syndromique"],"definition":"Forme de craniosynostose unisuturaire non syndromique caractérisée par une fusion prématurée de l'une des deux sutures lambdoïdes, entraînant un aplatissement occipito-pariétal ipsilatéral, un bombement pariétal et frontal controlatéral, un renflement occipito-mastoïdien et un déplacement postéro-inférieur de l'oreille du même côté. Le crâne semble trapézoïdal vu de dessus, tandis que le visage est généralement en forme de C avec une convexité ipsilatérale."},"de":{"name":"Kraniosynostose, unilambdoidale, nicht-syndromale","synonyms":["Isolierte okzipitale Plagiozephalie","Isolierte unilamboide Kraniosynostose","Posteriore synostotische Plagiozephalie, nicht-syndromale","Unilaterale lambdoidale Synostose, nicht-syndromale"],"definition":"Eine Form der nicht-syndromalen unisuturalen Kraniosynostose, die durch eine vorzeitige Fusion einer der beiden Lambdanähte gekennzeichnet ist, was zu einer ipsilateralen Abflachung des Okzipitoparietals, einer kontralateralen parietalen und frontalen Vorwölbung, einer okzipitomastoiden Ausbuchtung und einer Verschiebung des ipsilateralen Ohrs nach hinten-unten führt. Der Schädel erscheint von oben trapezförmig, während das Gesicht typischerweise C-förmig mit ipsilateraler Konvexität ist."},"es":{"name":"Craneosinostosis unilambdoidea no sindrómica","synonyms":["Craneosinostosis unilamboidea aislada","Plagiocefalia occipital aislada","Plagiocefalia sinostótica posterior no sindrómica","Sinostosis lambdoidea unilateral no sindrómica"],"definition":"Es una forma de craneosinostosis unisutural no sindrómica caracterizada por la fusión prematura de una de las dos suturas lambdoideas, lo que resulta en un aplanamiento occipitoparietal ipsilateral, una protuberancia parietal y frontal contralateral, un abultamiento occipitomastoideo y un desplazamiento posterior-inferior de la oreja ipsilateral. El cráneo tiene una apariencia trapezoide desde arriba, mientras que la cara suele tener forma de C con convexidad ipsilateral."},"it":{"name":"Craniosinostosi monolambdoidea non sindromica","synonyms":["Craniosinostosi isolata monolambdoidea","Plagiocefalia isolata occipitale","Plagiocefalia sinostotica posteriore non sindromica","Sinostosi lambdoidea monolaterale non sindromica"]},"nl":{"name":"Niet-syndromale unilambdoïde craniosynostose","synonyms":["Geïsoleerde unilambdoïde craniosynostose","Niet-syndromale posterieure synostotische plagiocefalie","Niet-syndromale unilaterale lambdoïde synostose","Niet-syndromale unilaterale synostose van lambdanaad","Niet-syndromale unilaterale synostose van sutura lambdoidea","Geïsoleerde occipitale plagiocefalie"],"definition":"Een vorm van niet-syndromale unisuturale craniosynostose, gekenmerkt door premature fusie van een van de twee lambdanaden (sutura lambdoidea), wat resulteert in ipsilaterale occipitopariëtale afplatting, contralaterale pariëtale en frontale bolling, uitpuiling ter hoogte van sutura occipitomastoidea, en posterieure-inferieure verplaatsing van het ipsilaterale oor. De schedel heeft van bovenaan gezien een trapezoïde vorm, terwijl het gelaat typisch C-vormig is met ipsilaterale convexiteit."},"pt":{"name":"Craniossinostose unilambdóide não-sindromática","synonyms":["Craniossinostose unilambdóide isolada","Plagiocefalia occipital isolada","Plagiocefalia sinostótica posterior não-sindromática","Sinostose lambdóide unilateral não-sindromática"]},"pl":{"name":"Niesyndromiczna kraniosynostoza obejmująca szew węgłowy","synonyms":["Isolated occipital plagiocephaly","Isolated unilamboid craniosynostosis","Non-syndromic posterior synostotic plagiocephaly","Non-syndromic unilateral lambdoid synostosis"],"definition":"Forma niesyndromicznej kraniosynostozy charakteryzująca się przedwczesnym zrośnięciem jednego z dwóch szwów węgłowych, co skutkuje spłaszczeniem potyliczno-ciemieniowym po tej samej stronie, wybrzuszeniem ciemieniowym i czołowym po przeciwnej stronie, wybrzuszeniem potyliczno-sutkowym i tylno-dolnym przemieszczeniem ucha po tej samej stronie. Czaszka wydaje się trapezoidalna w projekcji od góry, podczas gdy twarz przyjmuje zazwyczaj kształt litery C z wypukłością po tej samej stronie."},"cs":{"name":"Nesyndromická unilambdoidní kraniosynostóza","synonyms":["Isolated occipital plagiocephaly","Isolated unilamboid craniosynostosis","Non-syndromic posterior synostotic plagiocephaly","Non-syndromic unilateral lambdoid synostosis"]},"uk":{"name":"Несиндромальний уніламбдоїдний краніосиностоз","synonyms":["Ізольована потилична плагіоцефалія","Ізольований одноламбідний краніосиностоз","Несиндромна задня синостотична плагіоцефалія","Несиндромний односторонній 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":"0850074","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680402","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":620096,"name":"Non-syndromic unisutural craniosynostosis","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.0442,"area":"Worldwide","status":"Validated","source":"35636659[PMID]_ORPHANET"}],"phenotypes":null}