Mississippi State Department of Health

Trisomy 13 (Patau Syndrome)


Trisomy 13, known as Patau Syndrome, is a rare condition resulting from genetic errors on the 13th chromosome. This disorder causes severe intellectual and physical problems in most infants.

Trisomy 13 occurs when children have three copies of chromosome 13 instead of two. The disorder occurs in approximately 1 in 16,000 live births and much more commonly affects females than males. The severity of the impact of Trisomy 13 on development varies.

Information in Spanish Information in Vietnamese

About Trisomy 13

Impact on Development

Children with Trisomy 13 often have craniofacial defects such as cleft lip and palate, congenital heart defects, and abnormalities of the brain and spinal cord. Infants may also have eye defects which may result in unusually small eyes, more than the normal number of fingers and/or toes, kidney defects, and decreased muscle tone.

In addition, children with Trisomy 13 experience significant developmental and intellectual disabilities. Some children may also have vision or hearing impairments.

Clinical Course and Life Expectancy

Infants with Trisomy 13 are unusually small and have feeding difficulties which affect growth and development. They often experience significant health issues with feeding and breathing.

It is hard to predict how long a child with Trisomy 13 will live. Half of babies born with Trisomy 13 live longer than two weeks and fewer than 10% will survive the first year of life. Approximately 13% survive until 10 years of age.

For More Information

Treatment Options

Although there is no cure for Trisomy 13, children may receive treatment to manage their specific symptoms and health conditions based on the decisions of their medical team and family. Initial treatment focuses on stabilization and survival. Some families may opt to focus on palliative or hospice care. Treatment may include surgical procedures, depending upon the nature and severity of the abnormalities and associated symptoms as well as the joint decision of families and medical professionals. Surgeries may be postponed until after the first few months of life due to the increased risk of early death associated with Trisomy 13.

Children with Trisomy 13 who are less medically fragile may receive more developmental services including physical therapy, medical, and social services to maximize their functioning and provide the best quality of life possible. Families of children diagnosed with Trisomy 13 may also benefit from genetic counseling.

Trisomy 13 Resources

Resources for Families

First-Call Programs and Trisomy 13 Hotline

Support Services

Resource Centers or Clearinghouses

National and Local Organizations

Education and Support Programs

Resources for Healthcare Providers

Prenatal Screening Counseling for Families

General Resources

Links referenced on this page
Information in Spanish    http://msdh.ms.gov/msdhsite/index.cfm/41,14808,285,pdf/Trisomy_13_Spanish.pdf
Information in Vietnamese    http://msdh.ms.gov/msdhsite/index.cfm/41,14807,285,pdf/Trisomy_13_Vietnamese.pdf
National Library of Medicine: Trisomy 13    https://medlineplus.gov/genetics/condition/trisomy-13/
Genetic and Rare Diseases: Trisomy 13    https://rarediseases.info.nih.gov/diseases/7341/trisomy-13
National Organization for Rare Disorders: Trisomy 13    https://rarediseases.org/rare-diseases/trisomy-13-syndrome/
The Genetic and Rare Diseases Information Center (GARD)    https://rarediseases.info.nih.gov/
Chromosome Disorder Outreach    https://chromodisorder.org/
Hope for Trisomy    https://www.hopefortrisomy13and18.org/
The Mississippi Division of Medicaid    https://medicaid.ms.gov/medicaid-coverage/how-to-apply/
National Organization for Rare Disorders Trisomy 13    https://rarediseases.org/rare-diseases/trisomy-13-syndrome/
SOFT    https://trisomy.org/
Children and Youth with Special Health Care Needs (CYSHCN)    http://msdh.ms.gov/msdhsite/index.cfm/41,0,163,html ok
First Steps Early Intervention    http://msdh.ms.gov/msdhsite/index.cfm/41,0,74,html ok
Perinatal High Risk Management/Infant Services System (PHRM/ISS)    http://msdh.ms.gov/msdhsite/index.cfm/41,0,106,html ok
PACER    https://www.pacer.org/about/howpacerhelps.asp
Trisomy 13: Positive Cell Free DNA Screen    https://www.acmg.net/PDFLibrary/Trisomy-13.pdf
Prenatal Diagnosis for Congenital Malformations and Genetic Disorders    https://emedicine.medscape.com/article/1200683-overview
Trisomy 13    https://emedicine.medscape.com/article/947706-overview
Prenatal Genetic Screening Tests    https://www.acog.org/womens-health/faqs/prenatal-genetic-screening-tests
Genetic Disorders    https://www.acog.org/womens-health/faqs/genetic-disorders
Prenatal Genetic Testing Chart    https://www.acog.org/womens-health/infographics/prenatal-genetic-testing-chart
3 Questions to Ask Yourself Before Getting Prenatal Genetic Testing    https://www.acog.org/womens-health/experts-and-stories/the-latest/3-questions-to-ask-yourself-before-getting-prenatal-genetic-testing
Long-term survival of children born with congenital anomalies: A systematic review and meta-analysis of population-based studies    https://journals.plos.org/plosmedicine/article?id=10.1371
https://doi.org/10.1371/journal.pmed.1003356;    https://doi.org/10.1371/journal.pmed.1003356
Trisomy 13 and 18-Prevalence and mortality: A multi-registry population based analysis.    https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6848757/
The Care of Children with Congenital Heart Disease in Their Primary Medical Home.    https://doi.org/10.1542/peds.2017-2607
The Individuals with Disabilities Education Act (IDEA) for Children With Special Educational Needs.    https://pediatrics.aappublications.org/content/pediatrics/136/6/e1650.full.pdf
UpToDate: Evidence-based Clinical Decision Support provides the latest evidence and best practices for clinicians    https://www.wolterskluwer.com/en/solutions/uptodate

Resources referenced
Information in Spanish    https://msdh.ms.gov/msdhsite/index.cfm/41,14808,285,pdf/Trisomy_13_Spanish.pdf ok
Information in Vietnamese    https://msdh.ms.gov/msdhsite/index.cfm/41,14807,285,pdf/Trisomy_13_Vietnamese.pdf ok

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