Living with Complete trisomy 13 syndrome
A chromosome condition (Patau syndrome) with severe intellectual disability and physical differences in many parts of the body.
Understanding Complete trisomy 13 syndrome
It is linked with severe intellectual disability and physical differences. People often have heart defects, brain or spinal cord differences, very small or poorly formed eyes, extra fingers or toes, cleft lip with or without cleft palate, and weak muscle tone. It is present from pregnancy and in newborns.
Signs & symptoms
Symptoms vary from person to person. GARD's summary describes these features:
- Heart defects
- Brain or spinal cord differences
- Very small or poorly formed eyes (microphthalmia)
- Extra fingers or toes
- Cleft lip, with or without cleft palate
- Weak 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 digestive system specialists, eye disease specialists, genetic specialists and kidney specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Digestive system specialists (gastroenterologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Kidney specialists (nephrologists)
- 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 Hope For Trisomy 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 describes it as a chromosome condition (an extra copy of chromosome 13) and doesn't list a specific gene.
Also known as: d trisomy syndrome (formerly); d>1< trisomy syndrome; patau syndrome; patau's syndrome; t13; trisomy 13
Patient organizations
- Hope For TrisomyComplete trisomy 13 syndrome · United States
- Support Organization for Trisomy 18, 13, and Related DisordersComplete trisomy 13 syndrome · United States
- Chromosome Disorder OutreachChromosome disorders · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Complete trisomy 13 syndrome.
Explore research for Complete trisomy 13 syndrome
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