Patau Syndrome (Trisomy 13) Symptoms and Diagnosis

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Chromosomal abnormalities are responsible for miscarriages and stillbirths. Abnormalities can cause significant issues, including Down Syndrome and other developmental delays or health issues. In trisomy, individuals have three copies of a chromosome rather than the normal two.

Patau syndrome, or Trisomy 13, is the least common of the autosomal trisomies and most severe, after Down syndrome (Trisomy 21) and Edwards syndrome (Trisomy 18). The extra copy of chromosome 13 in Patau syndrome causes severe neurological and heart defects that make it difficult for infants to survive.

The exact cause of Patau syndrome is not known; the same is true for VATER Syndrome. Patau appears to affect females more than males, most likely because male fetuses do not survive until birth. Patau syndrome, like Down syndrome, is associated with the increased age of the mother. It may affect individuals of all ethnic backgrounds.

Newborn babies in hospital nursery
Bruce Forster / Getty Images


Newborns born with Patau syndrome often have physical abnormalities or intellectual issues. Many babies do not survive past the first month or within the first year. Other symptoms include:

  • Extra fingers or toes (polydactyly)
  • Deformed feet, known as rocker-bottom feet
  • Neurological problems such as a small head (microcephaly), failure of the brain to divide into halves during gestation (holoprosencephaly), severe mental deficiency
  • Facial defects such as small eyes (microphthalmia), absent or malformed nose, cleft lip and/or cleft palate
  • Heart defects (80 percent of individuals)
  • Kidney defects

Patau syndrome is not very common. The prevalence in newborns is one in 5,000; 90% of babies with it die prior to birth.


Patau syndrome is often diagnosed during routine and optional prenatal screenings, including maternal blood screenings, fetal ultrasound, chorionic villus sampling, and amniocentesis.

If not detected during pregnancy and the baby is born, the symptoms of Patau syndrome are evident at birth. Patau syndrome may be mistaken for Edwards syndrome, so genetic testing must be done to confirm the diagnosis.

Imaging studies such as computed tomography (CT) or magnetic resonance imaging (MRI) should be done to look for brain, heart, and kidney defects. An ultrasound of the heart (echocardiogram) should be performed given the high frequency of heart defects associated with Patau syndrome.


Treatment of Patau syndrome focuses on the particular physical problems with which each child is born. Many infants have difficulty surviving the first few days or weeks due to severe neurological problems or complex heart defects.

Surgery may be necessary to repair heart defects or cleft lip and cleft palate. Physical, occupational, and speech therapy will help individuals with Patau syndrome reach their full developmental potential.


If your baby has been diagnosed with Patau syndrome prior to birth, your healthcare provider will go over options with you. Some parents opt for intensive intervention, while others opt to end the pregnancy. Others will continue the pregnancy and provide continual care for the child's life.

While the chances of survival are extremely low, some people do decide to try intensive care to prolong the child's life. These decisions are intensely personal and can only be made by you, your partner and your healthcare provider. 


Parents of a child born with Patau syndrome will receive genetic counseling to determine what their risk is of having another child with the syndrome. A good resource for information and support is the Support Organization for Trisomy 18, 13 and other Related Disorders (S.O.F.T.).Couples who lose a child with Patau syndrome prior to or after birth may benefit from grief support counseling.

2 Sources
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read our editorial process to learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.
  1. National Center for Advancing Translational Sciences. Trisomy 13. Genetic and Rare Diseases.

  2. Levy PA, Marion R. Trisomies. Pediatr Rev. 2018;39(2):104-106. doi:10.1542/pir.2016-0198

By Mary Kugler, RN
Mary Kugler, RN, is a pediatric nurse whose specialty is caring for children with long-term or severe medical problems.