Sandhoff disease
ICD-10: E75.0MeSH: D012497ORPHA: 796
Overview
lysosomal storage disorder from the GM2 gangliosidosis family, characterised by central nervous system degeneration
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 Sandhoff disease, sourced from HPO and Orphanet clinical annotations.
MacrocephalyFull cheeksHearing impairmentBlindnessSeizureAtaxiaMuscle weaknessFailure to thriveCongestive heart failureSplenomegalyRecurrent respiratory infectionsHepatomegalyMotor deteriorationSkeletal dysplasiaKyphosisAbnormal glycosphingolipid metabolismProgressive psychomotor deteriorationCherry red spot of the maculaAbnormality of movement
Classification & Codes
ICD-10 Code
E75.0MeSH Code
D012497Orphanet Code
ORPHA:796Sandhoff disease
| ICD-10 | E75.0 |
| MeSH | D012497 |
| Orphanet | ORPHA:796 |
| Treatments | 0 drug(s) |
| Symptoms on record | 19 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO