Living with Ring chromosome 18
A rare chromosome change with developmental delay, short height, and a wide range of other features depending on missing genes.
Understanding Ring chromosome 18
Genetic material can be lost from either arm, causing various signs. Some people have normal cells too (mosaicism) and may have milder symptoms. Features can include ear and hearing differences, hand and foot differences, genital differences in males, developmental delay, learning difficulties, and short stature. It can be noticed during pregnancy, at birth, or in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Global developmental delay
- Intellectual disability
- Short stature
- Small head size (microcephaly)
- Hearing and ear differences
- Increased risk of juvenile arthritis
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 18 Registry & Research Society 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 usually happens by chance when egg or sperm cells form or soon after. Occasionally it is inherited from a parent, usually the mother, and chromosome testing of parents can help.
Also known as: chromosome 18 ring; ring 18; ring chromosome 18 syndrome; ring chromosome type 18
Patient organizations
- Chromosome 18 Registry & Research SocietyRing chromosome 18 · United States
- Chromosome Disorder OutreachChromosome disorders · United States
You are more than your diagnosis
Perspectives from people navigating life with Ring chromosome 18.
Explore research for Ring chromosome 18
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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