Marinesco-Sjogren syndrome

ORPHA: 559

Contents

1. Overview
2. Available Treatments
3. Clinical Presentation
4. Classification & Codes

Overview

Marinesco-Sjogren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development.

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 Marinesco-Sjogren syndrome, sourced from HPO and Orphanet clinical annotations.

HypogonadismStrabismusCataractIntellectual disabilityAtaxiaHypotoniaDysarthriaGlobal developmental delayCerebellar hypoplasiaSpecific learning disabilityAplasia/Hypoplasia involving the skeletal musculatureDysphoniaAbnormal speech patternAbnormal cerebellar vermis morphologyMyopathyExternal genital hypoplasiaSevere short statureAbnormal circulating aldolase concentrationAbnormal circulating creatine kinase concentrationAbnormal circulating lactate dehydrogenase concentrationNystagmusPectus carinatumBrachydactylyAbnormal finger morphologySpasticityHypertoniaHip dysplasiaRigidityScoliosisCoxa valgaHip dislocationSkeletal muscle atrophyMuscle stiffnessMuscular dystrophyShort palmAvascular necrosis of the capital femoral epiphysisAbnormal metacarpal morphologyMetatarsus valgusMuscle flaccidityDyskinesiaMicrocephalyOptic atrophyHyporeflexiaAreflexiaPeripheral neuropathy

Classification & Codes

Orphanet Code

ORPHA:559

Marinesco-Sjogren syndrome

Orphanet	`ORPHA:559`
Treatments	0 drug(s)
Symptoms on record	45 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO