Living with Trisomy 18p
A rare chromosome condition with an extra copy of the short arm of chromosome 18, which can affect learning and the face.
Understanding Trisomy 18p
Severity depends on the size and place of the extra material. Reported features include intellectual disability, hand or foot differences, distinctive facial features, and epilepsy. A complete duplication of the p arm is rare. It can appear at a variety of ages.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Mild intellectual disability
- Attention deficit (ADHD)
- Close-set or narrow-opening eyes
- Narrow mouth and thin upper lip
- Foot or finger differences
- Undescended testes on both sides
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 is caused by an extra copy of the short arm of chromosome 18. It may occur by chance in a family or be inherited from a parent with the same duplication or a chromosome rearrangement, such as a balanced translocation.
Also known as: duplication 18p; duplication of the short arm of chromosome 18; trisomy of the short arm of chromosome 18; trisomy type 18p
Patient organizations
- Chromosome 18 Registry & Research SocietyTrisomy 18p · United States
- Hope For TrisomyTrisomy 18p · United States
- Trisomy 18 FoundationTrisomy 18p · United States
- Chromosome Disorder OutreachChromosome disorders · United States
You are more than your diagnosis
Perspectives from people navigating life with Trisomy 18p.
Explore research for Trisomy 18p
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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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