Trisomy 13 (Patau Syndrome)

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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.

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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.

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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

Last reviewed on May 30, 2023 request edits

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