Rhabdoid Tumor Predisposition Syndrome: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 2, 2026.
What kind of doctor treats Rhabdoid Tumor Predisposition Syndrome?
Care usually involves a team of specialists. Oncologists treat the tumors, surgeons remove them, and geneticists and genetic counselors help with testing and family planning. A primary care doctor often coordinates screening and follow-up. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What is rhabdoid tumor predisposition syndrome?
Rhabdoid tumor predisposition syndrome is a rare inherited condition that makes a person much more likely to develop certain fast-growing tumors, often in the brain, kidney, or other soft tissues. It happens when a gene called SMARCB1 does not work the way it should. People with this syndrome need regular screening so that any tumor can be found early.
Rhabdoid tumors are uncommon growths made of abnormal cells that divide quickly. Most appear in babies and young children, and they are rare in adults. The syndrome means a person was born with a change in one copy of the SMARCB1 gene, so it takes less damage for tumors to start.
Symptoms
Symptoms depend on where a tumor grows; the syndrome itself causes no signs on its own. A brain tumor may cause headaches, morning vomiting, balance problems, or changes in behavior. A tumor in the kidney or belly may cause a lump, pain, blood in the urine, or poor weight gain in a baby.
Causes and who gets it
The syndrome is caused by a mutation in the SMARCB1 gene. The change can be inherited from a parent or happen for the first time in a child. It is passed in a dominant pattern, meaning a child of an affected parent has a one in two chance of inheriting it, so genetic testing is often offered to family members.
How doctors diagnose it
Doctors usually start with genetic testing, often using a blood or saliva sample, to look for a change in the SMARCB1 gene. If a tumor is suspected, imaging scans such as MRI or ultrasound show its location and size, and a biopsy can confirm the diagnosis.
Treatment
Treatment focuses on the tumor itself. Doctors may use surgery, along with chemotherapy or radiation therapy, to remove or kill abnormal cells. Regular screening exams help find any new tumor as early as possible.
When to see a doctor
See a doctor for warning signs such as ongoing headaches, morning vomiting, balance problems, a lump in the belly, or blood in the urine. If the syndrome runs in your family, ask a doctor about genetic testing even without symptoms.
How a direct primary care or concierge doctor fits in
A direct primary care or concierge doctor can offer longer visits and easier access to care, which helps families manage ongoing screening and coordinate referrals to specialists.
Common questions
Is rhabdoid tumor predisposition syndrome cancer?
No, the syndrome itself is not cancer. It is a gene change that raises the chance of developing certain tumors, so regular screening matters.
Can adults get rhabdoid tumors?
Rhabdoid tumors are much more common in babies and young children, but adults can develop related tumors in rare cases. Adults with a known SMARCB1 gene change should follow their care team's screening plan.
Should family members get genetic testing?
Often yes, because the gene change can be passed down in a family. A genetic counselor can help families decide who should be tested and what the results mean.
Can this syndrome be prevented?
No, the gene change cannot be prevented because it is present from birth. Screening and early detection are the main tools for protecting health after a diagnosis.
Sources
- MedlinePlus Genetics - Rhabdoid tumor predisposition syndrome
- National Cancer Institute - Rhabdoid Tumor Predisposition Syndrome Type 1 (PDQ®) - NCI
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
