{"orpha":1516,"name":"Non-syndromic bilambdoid and sagittal craniosynostosis","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["BLSS","Bilateral lambdoid and sagittal synostosis","Isolated sagittal and bilambdoid craniosynostosis","Non-syndromic sagittal and bilateral lambdoid synostosis"],"definition":"A rare cranial malformation syndrome characterized by the premature closure of both lambdoid sutures and the posterior sagittal suture, resulting in abnormal skull contour (frontal bossing, anterior turricephaly with mild brachycephaly, biparietal narrowing, occipital concavity) and dysmorphic facial features (low-set ears, midfacial hypoplasia). Short stature, developmental delay, epilepsy, and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I, venous anomalies of skull, and hydrocephalus.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1516/","orphanet_url":"https://www.orpha.net/en/disease/detail/1516","names":{"fr":{"name":"Craniosynostose bilambdoïde et sagittale non syndromique","synonyms":["BLSS","Craniosynostose bilambdoïde et sagittale isolée","Craniosynostose lambdoïde bilatérale et sagittale non syndromique","Synostose sagittale et lambdoïde bilatérale"],"definition":"Syndrome rare de malformation crânienne caractérisé par la fermeture prématurée des deux sutures lambdoïdes et de la partie postérieure de la suture sagittale, conférant au crâne un contour anormal (bosse frontale, turricéphalie antérieure avec brachycéphalie légère, rétrécissement bipariétal, concavité occipitale) et une dysmorphie faciale (oreilles d'implantation basse, hypoplasie médio-faciale). Une petite taille, un retard de développement, une épilepsie et une dyspraxie oculomotrice ont également été rapportés. Des anomalies de type hypertrophie des ventricules cérébraux, agénésie du corps calleux, malformation d'Arnold-Chiari type I, malformations artérioveineuses cérébrales et une hydrocéphalie sont associées."},"de":{"name":"Bilaterale Lambdoid- und Sagittalsynostose, nicht-syndromale","synonyms":["BLSS","Bilaterale Lambdoid- und Sagittalsynostose","Isolierte sagittale und bilambdoidale Kraniosynostose","Nicht-syndromale sagittale und bilaterale lambdoidale Synostose"],"definition":"Die kraniofaziale Dyssynostose (CFD) ist ein seltenes kraniales Malformationssyndrom, welches durch den vorzeitigen Verschluss beider Lambdanähte und der posterioren Sagittalnaht charakterisiert ist. Dies führt zu einer abnormen Schädelform (frontale Vorwölbung, anteriore Turrizephalie mit leichter Brachyzephalie, biparietaler Verschmälerung, okzipitaler Konkavität) und fazialen Dysmorphien (tief sitzende Ohren, Mittelgesichtshypoplasie). Weiterhin wurde von Kleinwüchsigkeit, Entwicklungsverzögerung, Epilepsie und okulomotorischer Dyspraxie berichtet. Assoziierte Auffälligkeiten beinhalten eine Vergrößerung der zerebralen Ventrikel, eine Corpus Callosum-Agenesie, die sogenannte Arnold-Chiari Malformation Typ 1 (siehe dort), venöse Anomalien des Schädels, sowie Hydrozephalus."},"es":{"name":"Craneosinostosis bilambdoidea y sagital no sindrómica","synonyms":["Craneosinostosis sagital y bilambdoidea aislada","Sinostosis lambdoidea bilateral y sagital no sindrómica","Sinostosis lamboidea bilateral y sagital"],"definition":"Es un síndrome malformativo craneal poco frecuente caracterizado por el cierre prematuro de ambas suturas lambdoideas y de la sutura sagital posterior, resultando en un contorno craneal anormal (frente prominente, turricefalia anterior con braquicefalia leve, estrechamiento biparietal, concavidad occipital) y rasgos faciales dismórficos (orejas de implantación baja, hipoplasia del tercio medio facial). También se ha descrito talla baja, retraso del desarrollo, epilepsia y dispraxia oculomotora. Otras anomalías asociadas incluyen el engrosamiento de los ventrículos cerebrales, agenesia del cuerpo calloso, la malformación de Arnold-Chiari tipo I, anomalías venosas del cráneo e hidrocefalia."},"it":{"name":"Craniosinostosi non sindromica bilambdoidea e sagittale","synonyms":["BLSS","Craniosinostosi sagittale e bilambdoidea isolata","Sinostosi sagittale e lambdoidea bilaterale","Sinostosi sagittale e lambdoidea bilaterale non sindromica"],"definition":"La dissinostosi craniofacciale (CFD) è una sindrome malformativa rara del cranio, caratterizzata dalla chiusura prematura della sutura lambdoidea e sagittale posteriore, che causa anomalie del profilo del cranio (fronte bombata, turricefalia anteriore con lieve brachicefalia, restringimento biparietale, occipitale concavo) e dimorfismi facciali (orecchie basse, ipoplasia medio-facciale). Altri segni clinici sono la bassa statura, il ritardo dello sviluppo, l'epilessia e la disprassia oculomotoria. Possono essere presenti altre anomalie, come l'allargamento dei ventricoli cerebrali, l'agenesia del corpo calloso, la malformazione di Arnold-Chiari tipo 1 (si veda questo termine), le anomalie delle vene del cranio e l'idrocefalo."},"nl":{"name":"Niet-syndromale bilambdoïde en sagittale craniosynostose","synonyms":["BLSS","Bilaterale lambdoïdale en sagittale synostose","Geïsoleerde sagittale en bilambdoïde craniosynostose","Niet-syndromale sagittale en bilaterale lambdoïde synostose","Niet-syndromale synostose van pijlnaad en bilaterale lambdanaad","Niet-syndromale synostose van sutura sagittalis en bilaterale sutura lambdoidea"],"definition":"Een zeldzaam syndroom van malformatie van cranium, gekarakteriseerd door premature sluiting van zowel de lambdanaad (sutura lambdoidea) als de posterieure pijlnaad (sutura sagittalis), wat resulteert in abnormale schedelvorm (boller voorhoofd, anterieure turricefalie met milde brachycefalie, bipariëtale vernauwing, concaaf achterhoofd) en dysmorfe gelaatskenmerken (laagstaande oren, hypoplasie van middengezicht). Kleine gestalte, ontwikkelingsachterstand, epilepsie, en oculomotorische dyspraxie werden ook reeds gerapporteerd. Geassocieerde anomalieën zijn onder meer vergroting van hersenventrikels, agenesie van corpus callosum, malformatie van Arnold-Chiari type I, veneuze anomalieën van de schedel, en hydrocefalie."},"pt":{"name":"Craniossinostose sagital e bilambdoide não-sindromática","synonyms":["BLSS","Craniossinostose bilambdoide e sagital isolada","Sinostose lambdoide bilateral e sagital não-sindromática","Sinostose sagital e lambdoide bilateral"]},"pl":{"name":"Dyzostoza czaszkowo-twarzowa","synonyms":["Niesyndromiczna kraniosynostoza obejmująca oba szwy węgłowe i szew strzałkowy"]},"cs":{"name":"Kraniofaciální dyssynostóza","synonyms":["BLSS","Bilateral lambdoid and sagittal synostosis","Isolated sagittal and bilambdoid craniosynostosis","Non-syndromic sagittal and bilateral lambdoid synostosis"]},"uk":{"name":"Несиндромний біламбдоїдний та сагітальний краніосиностоз","synonyms":["Двосторонній лямбдоїдний і сагітальний синостоз","BLSS","Ізольований сагітальний та біламбдоїдний краніосиностоз","Несиндромний сагітальний та двосторонній лямбдоподібний синостоз"],"definition":"A rare cranial malformation syndrome characterized by the premature closure of both lambdoid sutures and the posterior sagittal suture, resulting in abnormal skull contour (frontal bossing, anterior turricephaly with mild brachycephaly, biparietal narrowing, occipital concavity) and dysmorphic facial features (low-set ears, midfacial hypoplasia). Short stature, developmental delay, epilepsy, and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I, venous anomalies of skull, and hydrocephalus."},"zh":{"name":"颅面骨不连","synonyms":["双侧人字缝和矢状缝早闭"]},"tr":{"name":"Kraniyofasiyal dissinostoz","synonyms":["BLSS","Bilateral lambdoid ve sagital sinostoz"]}},"xrefs":[{"source":"OMIM","code":"218350","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MeSH","code":"C536455","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1857511","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1575","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":"Cases/families","qualification":"Case(s)","class":null,"value":14.0,"area":"Worldwide","status":"Validated","source":"15723305[PMID]"},{"type":"Prevalence at birth","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"<1 / 1 000 000","value":0.05,"area":"Spain","status":"Validated","source":"15551327[PMID]_[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000194","label":"Open mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000402","label":"Stenosis of the external auditory canal","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000430","label":"Underdeveloped nasal alae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009891","label":"Underdeveloped supraorbital ridges","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000163","label":"Abnormal oral cavity morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001052","label":"Nevus flammeus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000960","label":"Sacral dimple","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Occasional (29-5%)","criteria":null}]}}