infantile osteopetrosis with neuroaxonal dysplasia

The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

Print

Disease Overview

This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus.


Synonyms

  • osteopetrosis and infantile neuroaxonal dystrophyosteopetrosis and infantile neuroaxonal dystrophy