Living with Ring chromosome 13
A rare chromosome change that can cause developmental delay, slow growth, a small head, and feet or palate differences.
Understanding Ring chromosome 13
Genes can be lost where the ends join, so severity depends on which genes are missing. Most people also have some cells with 46 normal chromosomes (mosaicism), which can lessen the effects. Features include developmental delay, slow growth, feeding and learning difficulties, a small head, and foot or palate differences. It usually is not inherited but can be.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe intellectual disability in some people
- Slow growth
- Small head size (microcephaly)
- Wide-set eyes and wide nasal bridge
- Hypospadias or other genital differences
- Low thyroid function (hypothyroidism)
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 digestive system specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Digestive system specialists (gastroenterologists); 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 usually happens by chance while egg or sperm cells form or soon after. In some cases it is inherited from a parent, and chromosome testing of parents can help.
Also known as: ring 13; ring chromosome 13 syndrome; ring chromosome type 13
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 13.
Explore research for Ring chromosome 13
Explore actively recruiting Ring chromosome 13 studies with HealthSpark.
Find actively recruiting studies for Ring chromosome 13 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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