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Start free with EleplanMarinesco-Sjögren syndrome
ORPHA:559Disease
What it is
A rare autosomal recessive disorder characterized by cerebellar ataxia, early-onset bilateral cataracts, chronic myopathy; additional features are delayed motor development and variable intellectual disability, hypergonadotrophic hypogonadism and delayed puberty, and short stature.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Childhood, Infancy
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
20- Abnormal aldolase level
- Abnormal circulating creatine kinase concentration
- Abnormality of speech or vocalization
- Abnormality of the cerebellar vermis
- Abnormal lactate dehydrogenase activity
- Aplasia/Hypoplasia involving the skeletal musculature
- Ataxia
- Cataract
- Cerebellar hypoplasia
- Dysarthria
- Dysphonia
- External genital hypoplasia
- Global developmental delay
- Hypogonadism
- Hypotonia
- Intellectual disability
- Myopathy
- Severe short stature
- Specific learning disability
- Strabismus
Common30–79%
20- Abnormality of finger
- Abnormal metacarpal morphology
- Avascular necrosis of the capital femoral epiphysis
- Brachydactyly
- Coxa valga
- Dyskinesia
- Hip dislocation
- Hip dysplasia
- Hypertonia
- Metatarsus valgus
- Muscle flaccidity
- Muscle stiffness
- Muscular dystrophy
- Nystagmus
- Pectus carinatum
- Rigidity
- Scoliosis
- Short palm
- Skeletal muscle atrophy
- Spasticity
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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