cataract-ataxia-deafness syndrome
MeSH: C538283ORPHA: 1368
Overview
Cataract-ataxia-deafness syndrome is characterised by mild intellectual deficit, congenital cataract, progressive sensorineural deafness and ataxia. It has been described in two sisters. The inheritance is likely to be autosomal recessive.
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 cataract-ataxia-deafness syndrome, sourced from HPO and Orphanet clinical annotations.
Sensorineural hearing impairmentVisual impairmentDevelopmental cataractNystagmusDecreased nerve conduction velocityAtaxiaMild intellectual disabilityHypertoniaAreflexiaTremorShort statureAdult onset sensorineural hearing impairmentPeripheral neuropathy
Classification & Codes
MeSH Code
C538283Orphanet Code
ORPHA:1368cataract-ataxia-deafness syndrome
| MeSH | C538283 |
| Orphanet | ORPHA:1368 |
| Treatments | 0 drug(s) |
| Symptoms on record | 13 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO