Living with Distal trisomy 18q
A rare chromosome condition with low muscle tone, delays in development, seizures, and distinct facial and finger features.
Understanding Distal trisomy 18q
The condition varies from person to person. Features can include low muscle tone, delays in movement, intellectual disability that can be mild or severe, and seizures. There may be differences in the brain, joined fingers or toes, a curved fifth finger, crossed eyes, and a short neck. Signs begin during pregnancy or in the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delays in overall development
- Cognitive (thinking and learning) impairment
- Differences in heart or blood vessels
- Small lower jaw (micrognathia)
- Long, slender fingers (arachnodactyly)
- Fingers that stay bent (camptodactyly)
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
GARD says changes in a person's genes cause this condition. The summary describes it as an extra copy of part of the long arm of chromosome 18.
Also known as: distal duplication 18q; distal trisomy type 18q; telomeric duplication 18q; trisomy 18qter
Patient organizations
- Chromosome 18 Registry & Research SocietyDistal trisomy 18q · United States
- Chromosome Disorder OutreachChromosome disorders · United States
You are more than your diagnosis
Perspectives from people navigating life with Distal trisomy 18q.
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