Living with RIDDLE syndrome
A rare genetic immune condition with sensitivity to radiation, mild immune weakness, distinct facial features, and learning difficulties.
Understanding RIDDLE syndrome
The name comes from its main features: radiosensitivity (R), immunodeficiency (ID), dysmorphic features (D), and learning difficulties (LE). People may get repeated infections of the lungs and sinuses and may be short. It begins in infancy and can be noticed as late as the teen years.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weakened immune system
- Repeated pneumonia and bronchitis
- Repeated sinus infections
- Repeated fevers
- Short height
- Specific learning disability
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 allergy and immune system specialists, brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in RNF168 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
National Ataxia Foundation and Immune Deficiency Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Allergy and immune system specialists (allergists / immunologists); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: National Ataxia Foundation, Immune Deficiency Foundation
- 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 Ataxia 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
It is caused by changes in the RNF168 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome; radiosensitivity, immunodeficiency, dysmorphic features, learning difficulties syndrome; riddle (radiosensitivity, immunodeficiency, dysmorphic features, learning difficulties) syndrome; rnf168 (ring finger protein 168) deficiency; rnf168 deficiency
Patient organizations
- National Ataxia FoundationAtaxia · United States
- Immune Deficiency FoundationPrimary immunodeficiency · United States
You are more than your diagnosis
Perspectives from people navigating life with RIDDLE syndrome.
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