Living with Distal trisomy 11q
A rare chromosome condition that affects the shape of the head and face, learning, and sometimes the heart and other body systems.
Understanding Distal trisomy 11q
The condition varies a lot. It mainly involves differences in the head and face and intellectual disability. Some people also have short height, seizures, heart differences, or differences in the bones, fingers, or genitals. Hearing loss, language delay, pain insensitivity, and autistic features have also been reported. Signs begin during pregnancy or in the newborn period.
Signs & symptoms
GARD doesn't list specific symptoms for this condition separately, but the summary describes these features:
- Intellectual disability
- Differences in head and face shape
- Short height
- Seizures
- Heart differences
- Hearing loss and delayed expressive language
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 11q Research & Resource Group 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 11.
Also known as: chromosome 11, partial trisomy 11q; distal duplication 11q; distal trisomy type 11q; telomeric duplication 11q; trisomy 11qter
Patient organizations
- 11q Research & Resource GroupDistal trisomy 11q · United States
- Chromosome Disorder OutreachChromosome disorders · United States
You are more than your diagnosis
Perspectives from people navigating life with Distal trisomy 11q.
Explore research for Distal trisomy 11q
Explore actively recruiting Distal trisomy 11q studies with HealthSpark.
Find actively recruiting studies for Distal trisomy 11q 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 Distal trisomy 11q 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 Distal trisomy 11q
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 Distal trisomy 11q 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.