Epidermal nevus syndrome
ORPHA: 35125
Overview
a rare neurocutaneous syndrome
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 Epidermal nevus syndrome, sourced from HPO and Orphanet clinical annotations.
NevusHyperpigmentation of the skinHypopigmentation of the skinSpinal cord compressionSpinal canal stenosisAtrophy of the spinal cordProgressive spastic paraparesisPainAstigmatismVisual impairmentDelayed speech and language developmentGlobal developmental delayHypertoniaAreflexiaThoracolumbar scoliosisBabinski signWeakness of long finger extensor musclesSpinal cord tumorLipomaAbnormal brain morphologyPolycystic kidney dysplasiaOsteopeniaAbnormal facial shapeRhabdomyosarcomaAortic aneurysmDecreased circulating vitamin D concentration
Classification & Codes
Orphanet Code
ORPHA:35125Epidermal nevus syndrome
| Orphanet | ORPHA:35125 |
| Treatments | 0 drug(s) |
| Symptoms on record | 26 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO