Primary basilar invagination

Orpha code: 2285OMIM code: 109500

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.

Disease data
Classification

Morphological anomaly

Synonyms
Bull-Nixon syndrome
Zespół Bulla i Nixona
ORPHA code
2285
OMIM code
109500
ICD10 code
Q75.8
ICD11 code
-

No additional description.

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