Living with Ring chromosome 22
A rare chromosome change causing developmental and speech delay, low muscle tone, and distinct features.
Understanding Ring chromosome 22
The amount lost varies from person to person. People may have global developmental delay, delayed speech, low muscle tone, a small head size, and autistic behavior. They may also have unsteady walking and reduced pain sensation. Most cases happen by chance, without a family history. It begins in the newborn and infant period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Global developmental delay
- Delayed speech and language
- Low muscle tone
- Unsteady walking (gait ataxia)
- Autistic behavior
- Reduced pain sensation
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
A piece of the short arm and a piece of the long arm of chromosome 22 are missing and the ends form a ring. Most cases happen by chance with no family history.
Also known as: chromosome 22 ring; r(22) syndrome; ring 22; ring chromosome 22 syndrome; ring chromosome type 22
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 22.
Explore research for Ring chromosome 22
Explore actively recruiting Ring chromosome 22 studies with HealthSpark.
Find actively recruiting studies for Ring chromosome 22 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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