Living with Chromosome 8-derived supernumerary ring/marker
A condition present from birth caused by a ring-shaped or extra chromosome 8, with kidney and urinary differences, facial differences, and learning needs.
Understanding Chromosome 8-derived supernumerary ring/marker
It is caused by a change in how chromosome 8 forms. Symptoms vary depending on which part is affected, and some people have very mild symptoms. When present, they usually start in newborns. They can include urinary tube differences with kidney swelling, differences in the forehead, hairline, eyes, nose, and ears, and an irregularly shaped roof of the mouth. People may have intellectual disability and bent or angled fingers.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Differences in the urine tube (ureter)
- Kidney swelling from backed-up urine (hydronephrosis)
- High forehead and frontal bossing
- Irregular shape of the roof of the mouth
- Fingers that bend or angle
- Extra amniotic fluid in pregnancy
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
GARD says it is caused by a change in the formation of chromosome 8, such as a ring-shaped or extra chromosome.
Also known as: chromosome 8 derived supernumerary ring; r(8) syndrome; ring 8; ring chromosome 8; ring chromosome 8 syndrome; rose cluster 8
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 Chromosome 8-derived supernumerary ring/marker.
Explore research for Chromosome 8-derived supernumerary ring/marker
Explore actively recruiting Chromosome 8-derived supernumerary ring/marker studies with HealthSpark.
Find actively recruiting studies for Chromosome 8-derived supernumerary ring/marker 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
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Chromosome 8-derived supernumerary ring/marker studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Chromosome 8-derived supernumerary ring/marker
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Chromosome 8-derived supernumerary ring/marker experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.