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primary basilar invagination - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

primary basilar invagination

MONDO:0007188

Also known as:Bull-Nixon syndromebasilar impression, primaryprimary basilar impression

Overview

Primary basilar impression (PBI) is a very rare skeletal developmental defect characterized by congenital upward translocation of the upper cervical spine and clivus into the foramen magnum. PBI can be asymptomatic or associated with severe neurological dysfunction.

GeneticsAutosomal dominant

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Kyphoscoliosis, Horner syndrome, Syringomyelia, and Craniofacial asymmetry and 5 more.

Organ System	Phenotype Count	Example Features
Bones and joints	1	Kyphoscoliosis
Head and neck

Diagnosis

Biomarker and diagnostic research for primary basilar invagination has been reported in the published literature.

Prognosis

Estimated prevalence: Unknown (Unknown prevalence).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for primary basilar invagination.

104 publications have been identified in PubMed for primary basilar invagination. Kisho has analyzed 57 by research type. Research spans Review / Meta-Analysis (67%), Basic Science / Preclinical (11%), and Gene Therapy / Novel Therapeutics (9%).

Research Type	Count	% of Total
Research summaries	38	67%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 2:51 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:109500

Orphanet

European rare disease database

Orphanet:2285

GARD

Genetic and Rare Diseases Info Center

GARD:1037

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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Kisho

primary basilar invagination

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

primary basilar invagination

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications