Living with Ring chromosome 14
A rare chromosome condition that causes seizures starting in infancy or early childhood, plus learning and developmental differences.
Understanding Ring chromosome 14
Repeated seizures (epilepsy) begin in infancy or early childhood and are often hard to control with medicine. Most people have some intellectual disability or learning problems, and speech and motor skills can be delayed. Other features can include slow growth, small head size, puffy hands or feet, and repeated infections. Major birth defects are rarely seen.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Seizures
- Intellectual disability
- Delayed speech and motor skills
- Low muscle tone
- Repeated infections
- Small head size that develops after birth
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 brain and nervous system specialists, genetic specialists and seizure and epilepsy specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Epilepsy Foundation
- 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 Child Neurology Foundation and other patient organizations
- 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 14 forms a ring. GARD does not name a gene or list an inheritance pattern.
Also known as: chromosome 14 ring; ring 14; ring 14 syndrome; ring chromosome 14 syndrome; ring chromosome 14 syndrome, isolated cases; ring chromosome type 14
Patient organizations
- Child Neurology FoundationRing chromosome 14 · United States
- Ring14 USARing chromosome 14 · United States
- Chromosome Disorder OutreachChromosome disorders · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Ring chromosome 14.
Explore research for Ring chromosome 14
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- Recruiting studies from ClinicalTrials.gov
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- 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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