leukoencephalopathy-palmoplantar keratoderma syndrome
ORPHA: 2386
Overview
human disease
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-palmoplantar keratoderma syndrome, sourced from HPO and Orphanet clinical annotations.
Palmoplantar hyperkeratosisHypertoniaUnsteady gaitCognitive impairmentDementiaPseudobulbar signsTetraparesisEEG with generalized slow activityMuscle weaknessSlurred speechClumsinessTip-toe gaitDiaphyseal dysplasiaPapuleHypoplasia of the corpus callosumDecreased number of peripheral myelinated nerve fibers
Classification & Codes
Orphanet Code
ORPHA:2386leukoencephalopathy-palmoplantar keratoderma syndrome
| Orphanet | ORPHA:2386 |
| Treatments | 0 drug(s) |
| Symptoms on record | 16 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO