leukoencephalopathy-metaphyseal chondrodysplasia syndrome
MeSH: C567065ORPHA: 83629
Overview
genetic human disorder
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 leukoencephalopathy-metaphyseal chondrodysplasia syndrome, sourced from HPO and Orphanet clinical annotations.
LeukoencephalopathyMetaphyseal chondrodysplasiaVisual impairmentAbnormal optic nerve morphologyIntellectual disabilitySpastic paraplegiaGait disturbanceTremorHyperreflexiaCerebral atrophyAbnormal pyramidal tract morphologyHypoplasia of the corpus callosumEnlargement of the wristsBabinski signReduced bone mineral densityAbnormal brainstem MRI signal intensityTip-toe gaitLarge kneeAbnormal astrocyte morphologyAnteverted naresHorizontal nystagmusDepressed nasal bridgeMidface retrusion
Classification & Codes
MeSH Code
C567065Orphanet Code
ORPHA:83629leukoencephalopathy-metaphyseal chondrodysplasia syndrome
| MeSH | C567065 |
| Orphanet | ORPHA:83629 |
| Treatments | 0 drug(s) |
| Symptoms on record | 23 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO