Living with Distal trisomy 13q
A rare chromosome condition with learning disability, delayed development, and distinct facial features, and sometimes differences in the heart and other body parts.
Understanding Distal trisomy 13q
People with this condition often have intellectual disability and delays in development and movement. Facial features can include a small head, bushy eyebrows, long curled eyelashes, and a short neck. Extra fingers or toes and blood vessel birthmarks (hemangiomas) can occur. Heart, urinary and genital, and neural tube differences, hernias, seizures, and low muscle tone 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
- Delays in development and movement
- Small head size (microcephaly)
- Extra fingers or toes (polydactyly)
- Seizures
- Low muscle tone (hypotonia)
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 13.
Also known as: distal duplication 13q; distal trisomy type 13q; telomeric duplication 13q; trisomy 13qter
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 13q.
Explore research for Distal trisomy 13q
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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