{"orpha":35093,"name":"Non-syndromic sagittal craniosynostosis","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Isolated sagittal craniosynostosis","Isolated scaphocephaly","Non-syndromic sagittal suture synostosis"],"definition":"A form of nonsyndromic craniosynostosis characterized by premature fusion of the sagittal suture.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-35093/","orphanet_url":"https://www.orpha.net/en/disease/detail/35093","names":{"fr":{"name":"Craniosynostose sagittale non syndromique","synonyms":["Craniosynostose sagittale isolée","Scaphocéphalie isolée"],"definition":"Forme de craniosynostose non syndromique caractérisée par une fusion prématurée de la suture sagittale."},"de":{"name":"Sagittalnaht-Synostose, nicht-syndromale","synonyms":["Isolierte sagittale Kraniosynostose","Nicht-syndromale Synostose der Sagittalnaht","Skaphozephalie, isolierte"],"definition":"Eine Form der nicht-syndromalen Kraniosynostose, die durch eine vorzeitige Verschmelzung der Sagittalnaht gekennzeichnet ist."},"es":{"name":"Craneosinostosis sagital no sindrómica","synonyms":["Craneosinostosis sagital aislada","Escafocefalia aislada","Sinostosis de la sutura sagital no sindrómica"],"definition":"Es una forma de craneosinostosis no sindrómica caracterizada por la fusión prematura de la sutura sagital."},"it":{"name":"Craniosinostosi sagittale non sindromica","synonyms":["Craniosinostosi sagittale isolata","Scafocefalia isolata","Sinostosi non sindromica della sutura sagittale"]},"nl":{"name":"Niet-syndromale sagittale craniosynostose","synonyms":["Geïsoleerde sagittale craniosynostose","Geïsoleerde scafocefalie","Niet-syndromale synostose van pijlnaad","Niet-syndromale synostose van sutura sagittalis"],"definition":"Een vorm van niet-syndromale craniosynostose, gekenmerkt door voortijdige fusie van sutura sagittalis (pijlnaad)."},"pt":{"name":"Craniossinostose sagital não-sindromática","synonyms":["Craniossinostose sagital isolada","Escafocefalia isolada","Sinostose da sutura sagital não-sindromática"]},"pl":{"name":"Skafocefalia izolowana","synonyms":["Dolichocefalia izolowana","Niesyndromiczna synostoza strzałkowa"]},"cs":{"name":"Izolovaná skafocefalie","synonyms":["Izolovaná dolichocefalie","Nesyndromická sagitální synostóza"]},"uk":{"name":"Несиндромний сагітальний краніосиностоз","synonyms":["Ізольований сагітальний краніосиностоз","Ізольована скафоцефалія","Несиндромний синостоз сагітального шва"],"definition":"Isolated scaphocephaly is a form of nonsyndromic craniosynostosis characterized by premature fusion of the sagittal suture."},"zh":{"name":"孤立型舟状头","synonyms":["非综合征性矢状缝骨性融合症"]},"tr":{"name":"İzole skafosefali","synonyms":["İzole dolikosefali","Sendromik olmayan sagital sinostoz"]}},"xrefs":[{"source":"OMIM","code":"123100","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615529","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q75.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB70.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"130997345"},{"source":"MONDO","code":"0018112","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680150","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98684,"name":"Craniostenosis with strabismus","classifications":[156,189]},{"orpha":620096,"name":"Non-syndromic unisutural craniosynostosis","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"TWIST1","name":"twist family bHLH transcription factor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17343269[PMID]","hgnc":"12428","ensembl":"ENSG00000122691","omim":"601622","loci":["7p21.1"]},{"symbol":"ALX4","name":"ALX homeobox 4","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"22829454[PMID]","hgnc":"450","ensembl":"ENSG00000052850","omim":"605420","loci":["11p11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":20.7,"area":"Australia","status":"Validated","source":"34626670[PMID]_ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":20.7,"area":"Australia","status":"Validated","source":"34626670[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002516","label":"Increased intracranial pressure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000269","label":"Prominent occiput","frequency":"Occasional (29-5%)","criteria":null}]}}