Living with Thyrocerebrorenal syndrome
A very rare genetic condition with kidney, brain, and thyroid problems and low platelets, starting in childhood.
Understanding Thyrocerebrorenal syndrome
It begins in childhood. GARD says there have been no further descriptions in the medical literature since 1978.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Kidney inflammation (nephritis) and kidney problems
- Enlarged thyroid with normal hormone levels (euthyroid goiter)
- Low platelet count (thrombocytopenia)
- Seizures and sudden muscle jerks (myoclonus)
- Unsteady movement (cerebellar ataxia) and slurred speech
- Hearing loss (sensorineural)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists and kidney specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Genetic specialists (geneticists); Kidney specialists (nephrologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with National Kidney Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says this condition is autosomal recessive, so a child inherits a changed copy of a gene from each parent. It doesn't name a specific gene.
Also known as: cutler bass romshe syndrome; cutler-bass-romshe syndrome; thyrocerebroretinal syndrome
Patient organizations
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Thyrocerebrorenal syndrome.
Explore research for Thyrocerebrorenal syndrome
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- Eligibility is confirmed by the study team
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