{"orpha":2285,"name":"Primary basilar invagination","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Bull-Nixon syndrome"],"definition":"A rare skeletal developmental defect characterized by congenital upward translocation of the upper cervical spine and clivus into the foramen magnum. It can be asymptomatic or associated with severe neurological dysfunction.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2285/","orphanet_url":"https://www.orpha.net/en/disease/detail/2285","names":{"fr":{"name":"Invagination basilaire primitive","synonyms":["Syndrome de Bull-Nixon"],"definition":"Anomalie très rare du développement squelettique, caractérisée par la translocation vers le haut de la partie supérieure de la colonne cervicale et du clivus dans le foramen magnum. L'impression basilaire primitive peut être asymptomatique ou être associée à un dysfonctionnement neurologique sévère."},"de":{"name":"Primäre basiläre Invagination","synonyms":["Basilarimpression, primäre","Bull-Nixon-Syndrom"],"definition":"Eine seltene Entwicklungsstörung des Skeletts, die durch eine angeborene Verlagerung der oberen Halswirbelsäule und des Schlüsselbeins nach oben in das Foramen magnum gekennzeichnet ist. Sie kann asymptomatisch verlaufen oder mit schweren neurologischen Funktionsstörungen einhergehen."},"es":{"name":"Invaginación basilar primaria","synonyms":["Síndrome de Bull-Nixon"],"definition":"Es un defecto congénito poco frecuente del desarrollo esquelético caracterizado por una invaginación ascendente de la columna cervical superior y el clivus hacia el foramen magnum. Puede ser asintomática o estar asociada a disfunción neurológica grave."},"it":{"name":"Invaginazione basilare primitiva","synonyms":["Sindrome di Bull-Nixon"]},"nl":{"name":"Primaire basilaire invaginatie","synonyms":["Syndroom van Bull-Nixon"],"definition":"Een zeldzaam ontwikkelingsdefect van skelet, gekenmerkt door congenitale opwaartse verplaatsing van bovenste halswervels en clivus in foramen magnum (achterhoofdsgat). Het kan asymptomatisch zijn, of geassocieerd zijn met ernstige neurologische disfunctie."},"pt":{"name":"Invaginação basilar primária","synonyms":["Síndrome Bull-Nixon"]},"pl":{"name":"Pierwotne wgniecenie podstawy czaszki","synonyms":["Zespół Bulla i Nixona"],"definition":"Rzadka wada rozwojowa szkieletu charakteryzująca się wrodzonym przemieszczeniem górnego odcinka kręgosłupa szyjnego i stoku do otworu wielkiego. Może przebiegać bezobjawowo lub wiązać się z ciężką dysfunkcją neurologiczną."},"cs":{"name":"Primární bazilární invaginace","synonyms":["Bullův-Nixonův syndrom","Bull-Nixonův syndrom"]},"uk":{"name":"Первинна базилярна інвагінація","synonyms":["Синдром Булла-Ніксона"],"definition":"A rare skeletal developmental defect characterized by congenital upward translocation of the upper cervical spine and clivus into the foramen magnum. It can be asymptomatic or associated with severe neurological dysfunction."},"zh":{"name":"原发性颅底凹陷症","synonyms":["Bull-Nixon综合征"]},"tr":{"name":"Primer baziler invajinasyon","synonyms":["Bull-Nixon sendromu"]}},"xrefs":[{"source":"OMIM","code":"109500","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q75.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0007188","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679631","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1037","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":102000,"name":"Medullar disease","classifications":[181]},{"orpha":183515,"name":"Rare genetic medullar disease","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0003468","label":"Abnormal vertebral morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003319","label":"Abnormality of the cervical spine","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005758","label":"Basilar impression","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002691","label":"Platybasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000496","label":"Abnormality of eye movement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000600","label":"Abnormality of the pharynx","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001608","label":"Abnormality of the voice","frequency":"Frequent (79-30%)","criteria":null}]}}