Living with Tetrasomy 18p
A chromosome condition that can affect feeding, development, muscle tone, and facial features from infancy.
Understanding Tetrasomy 18p
It usually causes feeding difficulties in infancy, delayed development, changes in muscle tone, and distinctive facial features. Intellectual disability is often mild to moderate but can be severe. Other features can include seizures, vision and hearing problems, curved spine, and birth defects of the heart and other organs. Signs and symptoms vary among people.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small head (microcephaly)
- Ears rotated toward the back of the head
- Eye folds (epicanthus)
- Long philtrum (groove above the upper lip)
- Differences in how brain cells move during development
- Feeding trouble and delayed development
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 genes (variants) cause this condition, but it doesn't name a specific gene. It is a chromosomal condition.
Also known as: 18p isochromosome; 18p tetrasomy; isochromosome 18p; isochromosome 18p syndrome; tetrasomy type 18p
Patient organizations
- Chromosome 18 Registry & Research SocietyTetrasomy 18p · United States
- Chromosome Disorder OutreachChromosome disorders · United States
You are more than your diagnosis
Perspectives from people navigating life with Tetrasomy 18p.
Explore research for Tetrasomy 18p
Explore actively recruiting Tetrasomy 18p studies with HealthSpark.
Find actively recruiting studies for Tetrasomy 18p 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
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Tetrasomy 18p studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Tetrasomy 18p
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Tetrasomy 18p experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.