Primary basilar invagination
ORPHA:2285· ICD-10 Q75.8
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.
- Prevalence
- Unknown
- Inheritance
- Autosomal dominant
- Age of onset
- All ages