infantile osteopetrosis with neuroaxonal dysplasia
MeSH: C536055ORPHA: 85179
Overview
This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with infantile osteopetrosis with neuroaxonal dysplasia, sourced from HPO and Orphanet clinical annotations.
SeizureGlobal developmental delayAgenesis of corpus callosumPartial agenesis of the corpus callosumCerebral atrophyVentriculomegalyIncreased skull ossificationCranial nerve paralysisPeripheral neuropathyBrain atrophyAbnormal myelinationHypoplastic hippocampusConductive hearing impairmentPneumoniaFetal distress
Classification & Codes
MeSH Code
C536055Orphanet Code
ORPHA:85179infantile osteopetrosis with neuroaxonal dysplasia
| MeSH | C536055 |
| Orphanet | ORPHA:85179 |
| Treatments | 0 drug(s) |
| Symptoms on record | 15 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO