Living with Ring chromosome 17
A rare chromosome change with effects from mild to severe, including short height, seizures, and intellectual disability.
Understanding Ring chromosome 17
A severe form includes lissencephaly (a smooth brain surface) and severe intellectual disability. A milder form includes short stature, small head size, intellectual disability, seizures that may be hard to treat, café-au-lait spots, and minor facial differences. The effects depend on whether the Miller-Dieker critical region is involved.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Global developmental delay
- Intellectual disability
- Seizures
- Short stature
- Café-au-lait spots
- Retinal flecks
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.
- 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)
- 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 Chromosome Disorder Outreach
- 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 a chromosome change in which chromosome 17 forms a ring. GARD says the effects depend on whether the Miller-Dieker critical region is present or missing.
Also known as: ring 17; ring chromosome 17 syndrome; ring chromosome type 17
Patient organizations
- Chromosome Disorder OutreachChromosome disorders · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Ring chromosome 17.
Explore research for Ring chromosome 17
Explore actively recruiting Ring chromosome 17 studies with HealthSpark.
Find actively recruiting studies for Ring chromosome 17 with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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