Short answer · Medically reviewed summary · Last updated: 2026-05-08
Marinesco-Sjögren Syndrome (MSS) is classified under the ICD-10 code G11.1 (early-onset cerebellar ataxia) and the ICD-9 code 334.2 (primary cerebellar degeneration). Because Marinesco-Sjögren Syndrome is a rare multisystem disorder, these codes are used for administrative billing and tracking, though they describe the broader category of cerebellar ataxias rather than the syndrome exclusively. What is the clinical presentation of Marinesco-Sjögren Syndrome? Marinesco-Sjögren Syndrome is characterized by a tetrad of clinical findings: cerebellar ataxia, congenital cataracts, intellectual disability, and myopathy.
ICD10 code of Marinesco-Sjögren Syndrome and ICD9 code
ICD-10 and ICD-9 codes for Marinesco-Sjögren Syndrome, with classification details for clinicians, coders and patients.
Marinesco-Sjögren Syndrome (MSS) is classified under the ICD-10 code G11.1 (early-onset cerebellar ataxia) and the ICD-9 code 334.2 (primary cerebellar degeneration). Because Marinesco-Sjögren Syndrome is a rare multisystem disorder, these codes are used for administrative billing and tracking, though they describe the broader category of cerebellar ataxias rather than the syndrome exclusively.
What is the clinical presentation of Marinesco-Sjögren Syndrome?
Marinesco-Sjögren Syndrome is characterized by a tetrad of clinical findings: cerebellar ataxia, congenital cataracts, intellectual disability, and myopathy. Symptoms typically manifest in early childhood, often presenting as delayed motor development. Patients with Marinesco-Sjögren Syndrome may also experience short stature, skeletal abnormalities, and hypergonadotropic hypogonadism. Our community at DiseaseMaps.org currently connects 9 individuals living with Marinesco-Sjögren Syndrome, providing a unique space to share experiences with these complex, multi-system challenges.
Is Marinesco-Sjögren Syndrome hereditary?
Yes, Marinesco-Sjögren Syndrome follows an autosomal recessive inheritance pattern. It is caused by mutations in the SIL1 gene, which provides instructions for making a protein essential for proper protein folding within the endoplasmic reticulum. Because it is recessive, both parents must carry a copy of the mutated gene for a child to be affected by Marinesco-Sjögren Syndrome.
How is the diagnosis managed?
Diagnosis of Marinesco-Sjögren Syndrome is confirmed through a combination of clinical evaluation and molecular genetic testing. Management is multidisciplinary, focusing on supportive care to improve quality of life:
- Ophthalmology: Early surgical intervention for congenital cataracts to improve vision.
- Neurology/Physical Therapy: Ongoing support for cerebellar ataxia and muscle weakness.
- Endocrinology: Monitoring for growth hormone deficiencies and pubertal development.
- Genetic Counseling: Essential for families to understand recurrence risks for future pregnancies.
Next steps
- Consult with a clinical geneticist or a metabolic specialist to confirm a diagnosis through SIL1 gene sequencing.
- Connect with the 9 community members on DiseaseMaps.org to share management strategies for Marinesco-Sjögren Syndrome.
- Maintain regular screenings with a multidisciplinary team including ophthalmologists, neurologists, and physical therapists.
Medical disclaimer: This information is for educational purposes only and does not replace professional medical advice, diagnosis, or treatment.
References
- Orphanet: Marinesco-Sjögren syndrome (ORPHA:553)
- NIH GARD: Marinesco-Sjögren syndrome (GARD ID: 7041)
- OMIM: Marinesco-Sjögren syndrome (OMIM #248800)
- PubMed: Clinical and genetic spectrum of SIL1-related disorders
