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Genetic and Rare Diseases Information Center (GARD)

Other Names for this Disease
  • Chromosome 13, trisomy 13 complete
  • Complete trisomy 13 syndrome
  • D trisomy syndrome (formerly)
  • Patau syndrome
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What are the signs and symptoms of trisomy 13?

Trisomy 13 is a chromosomal condition associated with severe intellectual disability and physical abnormalities in many parts of the body. Individuals with this condition often have heart defects, brain or spinal cord abnormalities, very small or poorly developed eyes (microphthalmia), extra fingers and/or toes (polydactyly), cleft lip or palate, and decreased muscle tone (hypotonia).[1] Many infants with trisomy 13 fail to grow and gain weight at the expected rate (failure to thrive), have severe feeding difficulties, and episodes in which there is temporary cessation of spontaneous breathing (apnea).[2]

Other features or trisomy 13 may include:[3]


Last updated: 1/9/2012

  1. Trisomy 13. Genetics Home Reference (GHR). 2009; Accessed 10/13/2009.
  2. Trisomy 13 Syndrome. National Organization for Rare Disorders (NORD). 2007; Accessed 10/13/2009.
  3. Chambers D. Trisomy 13. MedlinePlus. 2009; Accessed 10/13/2009.