{"orpha":140436,"name":"Familial intraosseous vascular malformation","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Hereditary intraosseous vascular malformation","VMOS"],"definition":"Primary intraosseous venous malformation is a rare, genetic vascular anomaly characterized by severe blood vessel expansion (most frequently within the craniofacial bones) with painless bone enlargement (usually of mandibule, maxilla and/or orbital, nasal, and frontal bones), typically resulting in facial asymmetry and contour deformation. Midline abnormalities, such as diastasis recti, supraumbilical raphe, and hiatus hernia, are commonly associated. Additional features reported include gingival bleeding, ectopic tooth eruption, exophthalmos, loss of vision, nausea, and vomiting.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-140436/","orphanet_url":"https://www.orpha.net/en/disease/detail/140436","names":{"fr":{"name":"Malformation veineuse osseuse familiale","synonyms":["Malformation veneuse héréditaire","VMOS"],"definition":"Une anomalie génétique vasculaire rare caractérisée par une expansion sévère des vaisseaux sanguins (le plus souvent au sein des os craniofaciaux), associée à un élargissement indolore des os (habituellement les os de la mandibule, du maxillaire et/ou les os frontaux, orbitaux et nasaux) et conduisant classiquement à une asymétrie faciale et à une malformation du contour du visage. Des anomalies de la ligne médiane sont fréquemment associées, comme un diastasis des droits, un raphé supra-ombilical et une hernie hiatale. Les signes additionnels incluent un saignement gingival, une éruption dentaire ectopique, une exophtalmie, une perte de la vision, des nausées et des vomissements."},"de":{"name":"Familiäre intraossäre vaskuläre Fehlbildung","synonyms":["Familiäre intraossäre vaskuläre Malformation","VMOS","Hereditäre intraossäre Gefäßfehlbildung"],"definition":"Die primäre intraossäre Venenfehlbildung ist eine seltene, genetisch bedingte vaskuläre Anomalie, die durch eine starke Erweiterung der Blutgefäße (am häufigsten innerhalb der kraniofazialen Knochen) mit einer schmerzlosen Knochenvergrößerung (in der Regel des Unterkiefers, des Oberkiefers und/oder des Orbital-, Nasen- und Stirnbeins) gekennzeichnet ist, was typischerweise zu einer Asymmetrie des Gesichts und einer Verformung der Konturen führt. Anomalien der Mittellinie, wie Diastasis recti, supraumbilikale Raphe und Hiatushernie, sind häufig assoziiert. Darüber hinaus wird über Zahnfleischbluten, ektopischen Zahndurchbruch, Exophthalmus, Sehverlust, Übelkeit und Erbrechen berichtet."},"es":{"name":"Malformación venosa intraósea primaria","synonyms":["Malformación vascular intraósea hereditaria"],"definition":"La malformación venosa intraósea primaria es una anomalía vascular genética poco frecuente caracterizada por una expansión grave de los vasos sanguíneos (con frecuencia dentro de los huesos craneofaciales) con agrandamiento óseo indoloro (generalmente de la mandíbula, el maxilar y / o los huesos orbitales, nasales y frontales), que generalmente resulta en asimetría facial y deformación del contorno. Suelen asociarse anomalías de la línea media, tales como diástasis de los rectos, rafe supraumbilical y hernia de hiato. Las características adicionales notificadas incluyen sangrado gingival, erupción dental ectópica, exoftalmos, pérdida de visión, náuseas y vómitos."},"it":{"name":"Malformazione vascolare intraossea familiare","synonyms":["Malformazione vascolare intraossea ereditaria"],"definition":"La malformazione venosa intraossea primitiva è un'anomalia vascolare genetica rara, caratterizzata da una grave espansione dei vasi sanguigni (in particolare tra le ossa craniofacciali) associata a un allargamento indolore delle ossa (di solito della mandibola, della mascella e/o delle ossa orbitali, nasali e frontali), che in genere esita nell'asimmetria del volto e nella deformazione del profilo. Spesso si associano anomalie della linea mediana, come la diastasi dei retti, il rafe sovraombelicale e l'ernia iatale. Altri segni clinici sono il sanguinamento gengivale, l'eruzione dentale ectopica, l'esoftalmo, la perdita della vista, la nausea e il vomito."},"nl":{"name":"Familiale intraossale vasculaire malformatie","synonyms":["Erfelijke intraossale vaatmalformatie","Hereditaire intraossale vasculaire malformatie","VMOS"],"definition":"Primaire intra-osseuze veneuze malformatie is een zeldzame, genetische vasculaire anomalie die gekarakteriseerd wordt door ernstige uitzetting van bloedvaten (meestal in craniofaciale botten) met pijnloze vergroting van botten (meestal van onder- en bovenkaakbeen en/of orbitale, nasale, en frontale botten), wat doorgaans resulteert in faciale asymmetrie en misvorming. Afwijkingen van de middellijn, zoals rectus diastase, supra-umbilicale raphe, en hiatusbreuk, zijn vaak geassocieerd. Bijkomende kenmerken die worden gerapporteerd, zijn onder meer bloeding van het tandvlees, ectopische tanderuptie, exoftalmie, functieverlies van het zicht, misselijkheid, en braken."},"pt":{"name":"Malformação vascular intraóssea familiar","synonyms":["VMOS","Malformação vascular intraóssea hereditária"]},"pl":{"name":"Rodzinna wewnątrzkostna malformacja naczyniowa","synonyms":["Malformacja naczyniowa kości","Naczyniak wewnątrzkostny"]},"cs":{"name":"Primární intraoseální vaskulární malformace","synonyms":["Intraoseální hemangiom","Kostní vaskulární malformace"]},"uk":{"name":"Первинна внутрішньокісткова венозна мальформація","synonyms":["Внутрішньокісткова гемангіома","Кісткова венозна мальформація"],"definition":"Primary intraosseous venous malformation is a rare, genetic vascular anomaly characterized by severe blood vessel expansion (most frequently within the craniofacial bones) with painless bone enlargement (usually of mandibule, maxilla and/or orbital, nasal, and frontal bones), typically resulting in facial asymmetry and contour deformation. Midline abnormalities, such as diastasis recti, supraumbilical raphe, and hiatus hernia, are commonly associated. Additional features reported include gingival bleeding, ectopic tooth eruption, exophthalmos, loss of vision, nausea, and vomiting."},"zh":{"name":"原发性骨内静脉畸形","synonyms":["骨性静脉畸形"],"definition":"原发性骨内静脉畸形是一种罕见的遗传性血管畸形，其特征是血管严重扩张（最常见于颅面骨内），伴无痛骨增大（常为下颌骨、上颌骨和/或眶骨、鼻骨和额骨），常导致面部不对称和轮廓变形。常与正中线异常，如腹直肌分离，脐上中缝，裂孔疝相关。其他特征包括牙龈出血、异位牙萌出、眼球突出、视力丧失、恶心和呕吐。"},"tr":{"name":"Primer intraosseöz venöz malformasyon","synonyms":["İntraosseöz hemanjiyom","Osseöz venöz malformasyon"]}},"xrefs":[{"source":"OMIM","code":"606893","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D18.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0011744","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564648","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1847197","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":235832,"name":"Congenital vascular bone syndrome","classifications":[156,199]},{"orpha":715339,"name":"Multifocal peripheral venous malformation","classifications":[147,198]}],"children":[],"genes":[{"symbol":"ELMO2","name":"engulfment and cell motility 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"27476657[PMID]","hgnc":"17233","ensembl":"ENSG00000062598","omim":"606421","loci":["20q13.12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}