Living with Ring chromosome 21
A rare chromosome change with effects from none to serious; some people are healthy and are found through fertility testing.
Understanding Ring chromosome 21
Many people have normal development and are found through testing for infertility, repeated miscarriages, or a child with a chromosome change. Others have mild to severe developmental or medical problems. Some have signs similar to Down syndrome. It can be noticed during pregnancy or as a newborn.
Signs & symptoms
Symptoms vary a lot from person to person. GARD lists these among the most common:
- Global developmental delay
- Intellectual disability
- Seizures
- Small head size (microcephaly)
- Infertility
- Absence of periods (amenorrhea)
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 may be inherited from a parent, usually the mother, or happen by chance when egg or sperm cells form or soon after. Chromosome testing of parents can help.
Also known as: chromosome 21 en anneau; chromosome 21 ring; ring chromosome 21 syndrome; ring chromosome type 21
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 21.
Explore research for Ring chromosome 21
Explore actively recruiting Ring chromosome 21 studies with HealthSpark.
Find actively recruiting studies for Ring chromosome 21 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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