ORPHA:2285
Primary basilar invagination
Synonyms: Bull-Nixon syndrome
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Primary basilar invagination | Bull-Nixon syndrome |
| fr | Invagination basilaire primitive | Syndrome de Bull-Nixon |
| de | Primäre basiläre Invagination | Basilarimpression, primäre · Bull-Nixon-Syndrom |
| es | Invaginación basilar primaria | Síndrome de Bull-Nixon |
| it | Invaginazione basilare primitiva | Sindrome di Bull-Nixon |
| nl | Primaire basilaire invaginatie | Syndroom van Bull-Nixon |
| pt | Invaginação basilar primária | Síndrome Bull-Nixon |
| pl | Pierwotne wgniecenie podstawy czaszki | Zespół Bulla i Nixona |
| cs | Primární bazilární invaginace | Bullův-Nixonův syndrom · Bull-Nixonův syndrom |
| uk | Первинна базилярна інвагінація | Синдром Булла-Ніксона |
| zh | 原发性颅底凹陷症 | Bull-Nixon综合征 |
| tr | Primer baziler invajinasyon | Bull-Nixon sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 109500 | E | validated | |
| ICD-10 | Q75.8 | NTBT | attributed | validated |
| MONDO | 0007188 | E | validated | |
| UMLS | C5679631 | E | validated | |
| GARD | 1037 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:102000Medullar disease
rare neurological diseases - ORPHA:183515Rare genetic medullar disease
rare genetic diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
8 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003468 | Abnormal vertebral morphology | |
| HP:0003319 | Abnormality of the cervical spine | |
| HP:0005758 | Basilar impression | |
| HP:0002691 | Platybasia | |
| HP:0000470 | Short neck | |
| Frequent (79-30%) | ||
| HP:0000496 | Abnormality of eye movement | |
| HP:0000600 | Abnormality of the pharynx | |
| HP:0001608 | Abnormality of the voice | |
Run the differential on the 5 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2285
- This record as JSON: /data/d/2285.json