Living with Distal trisomy 17q
A rare chromosome condition with intellectual disability, delayed development, short height, and distinct facial and skeletal features.
Understanding Distal trisomy 17q
Features vary but often include intellectual disability, delays in development, and short height. Distinct facial features can include a small head, low hairline, and a short, webbed neck. Differences in the bones and limbs, loose joints, and heart, brain, and urinary and genital differences are common. Signs are present from the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe intellectual disability
- Delays in overall development
- Small head size (microcephaly)
- Cleft palate
- Extra fingers (polydactyly)
- Short upper arms and thighs (rhizomelia)
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 Disorder Outreach
- 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 17.
Also known as: distal duplication 17q; distal trisomy 17q syndrome; distal trisomy type 17q; telomeric duplication 17q; trisomy 17qter
Patient organizations
- Chromosome Disorder OutreachChromosome disorders · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Distal trisomy 17q.
Explore research for Distal trisomy 17q
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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