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Ruijs-Aalfs Syndrome
A syndrome characterized by genomic instability and susceptibility toward early onset hepatocellular carcinoma that is caused by homozygous or compound heterozygous mutation in SPRTN on 1q42.2.
This information is for educational purposes only and is not medical advice. Always consult your healthcare provider about your specific condition and treatment.
When to seek help
Seek medical help right away if you have severe, sudden, or worsening symptoms, trouble breathing, chest pain, or any symptom that feels life-threatening. This community is for peer support and education only and is not a substitute for professional medical advice.
If you are experiencing a medical emergency, contact your local emergency services immediately.
Overview
A syndrome characterized by genomic instability and susceptibility toward early onset hepatocellular carcinoma that is caused by homozygous or compound heterozygous mutation in SPRTN on 1q42.2.
Resources
Join the Ruijs-Aalfs Syndrome community
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Posts in this community reflect personal experiences, not medical advice. Always talk to your doctor before changing your treatment.