Living with Non-distal trisomy 13q
A rare chromosome condition with growth and developmental delay and distinct facial features.
Understanding Non-distal trisomy 13q
The condition varies widely. GARD describes growth and developmental delay and facial differences such as a small head, a flat nose bridge, low-set ears, and sometimes cleft lip or palate. White blood cells may have extra projections, and fetal hemoglobin may persist. Crossed eyes, curved fingers, and undescended testes in males may occur. GARD lists onset as during pregnancy and as a newborn.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small head (microcephaly)
- Problems with thinking (cognitive impairment)
- Small lower jaw (micrognathia)
- High palate
- Extra little finger (postaxial polydactyly)
- Long, slender fingers (arachnodactyly)
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
It is caused by a partial duplication, or extra piece, of the long arm of chromosome 13. GARD doesn't list a specific gene or how it is inherited.
Also known as: non-distal duplication 13q; non-distal trisomy type 13q; non-telomeric trisomy 13q
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 Non-distal trisomy 13q.
Explore research for Non-distal trisomy 13q
Explore actively recruiting Non-distal trisomy 13q studies with HealthSpark.
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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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