Living with Ring chromosome 4 syndrome
A rare chromosome condition with slow growth, developmental delay, a small head, and facial differences.
Understanding Ring chromosome 4 syndrome
The most common features are slow growth before and after birth, developmental delay, intellectual disability, a small head size, and facial differences. Less often, people have a cleft lip or palate or differences in the heart, digestive system, or kidneys and urinary system. It begins in the newborn and infant period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Absent or small forearm bone (radius)
- Split hand
- Slow growth
- Developmental delay
- Small head size
- Cleft lip or palate (less often)
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 4 forms a ring. GARD does not name a gene or list an inheritance pattern.
Also known as: r(4) syndrome; ring 4; ring chromosome 4; ring chromosome type 4; rose cluster 4; syndrome r(4)
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 4 syndrome.
Explore research for Ring chromosome 4 syndrome
Explore actively recruiting Ring chromosome 4 syndrome studies with HealthSpark.
Find actively recruiting studies for Ring chromosome 4 syndrome 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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