adult Refsum disease
MeSH: D012035ORPHA: 773
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 adult Refsum disease, sourced from HPO and Orphanet clinical annotations.
Renal insufficiencyAnosmiaAbnormality of the eyeRetinopathyAbnormality of eye movementAbnormality of visionVisual impairmentPtosisCataractProgressive visual lossMicrophthalmiaNystagmusNyctalopiaDry skinAtaxiaCardiomyopathySplenomegalySensorineural hearing impairmentMiosisHypotoniaAbnormal foot morphologyPes cavusHammertoeAbnormality of metabolism/homeostasisRespiratory insufficiencyNail dysplasiaDevelopmental regressionSkeletal dysplasiaSkeletal muscle atrophyHemiplegia/hemiparesisAbnormal epiphysis morphologyAbnormal pyramidal signAbnormal retinal pigmentationIchthyosisPeripheral neuropathyShort metacarpalSevere intellectual disabilityHeart block
Classification & Codes
MeSH Code
D012035Orphanet Code
ORPHA:773adult Refsum disease
| MeSH | D012035 |
| Orphanet | ORPHA:773 |
| Treatments | 0 drug(s) |
| Symptoms on record | 38 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO