spastic paraplegia-nephritis-deafness syndrome
MeSH: C537937ORPHA: 2820
Overview
This syndrome is characterised by variable spastic paraplegia, bilateral sensorineural deafness, intellectual deficit and progressive nephropathy
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 spastic paraplegia-nephritis-deafness syndrome, sourced from HPO and Orphanet clinical annotations.
ProteinuriaNephropathySensorineural hearing impairmentIntellectual disabilitySpasticityGait disturbanceHyperreflexiaAbnormal speech patternParaplegiaHypertensionSevere short statureClinodactyly of the 5th finger
Classification & Codes
MeSH Code
C537937Orphanet Code
ORPHA:2820spastic paraplegia-nephritis-deafness syndrome
| MeSH | C537937 |
| Orphanet | ORPHA:2820 |
| Treatments | 0 drug(s) |
| Symptoms on record | 12 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO