Living with Ring chromosome 5
A rare chromosome change with a cat-like cry in newborns, severe developmental delay, short height, and heart and bone differences.
Understanding Ring chromosome 5
Main features include a mewing cry in newborns, severe developmental delay and intellectual disability, short stature, and low muscle tone. People may have a small head size, facial differences, heart defects, and bone differences such as small thumbs. It begins in the newborn and infant period.
Signs & symptoms
GARD doesn't list specific symptoms for this condition. Its summary describes these:
- Mewing cry as a newborn
- Severe developmental delay
- Intellectual disability
- Short stature
- Low muscle tone
- Heart defects and hand bone differences
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 5 forms a ring. GARD does not name a gene or list an inheritance pattern.
Also known as: ring 5; ring chromosome 5 syndrome; ring chromosome type 5; rose cluster 5
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 5.
Explore research for Ring chromosome 5
Explore actively recruiting Ring chromosome 5 studies with HealthSpark.
Find actively recruiting studies for Ring chromosome 5 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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