Patau syndrome – Trisomy 13

Patau syndrome (Trisomy 13) is a genetic disorder caused by the presence of an extra chromosome 13. It is the least common but the most serious of the viable chromosomal trisomies.

The prevalence is estimated at 1 in 12,000 births.

Life expectancy is limited, with an average 2.5 day survival rate. Ninety percent of infants die before they reach their first year. Many of the fetuses affected by the syndrome die before they are born (spontaneously miscarry). Babies with Patau syndrome suffer from multiple serious malformations resulting in profound physical and mental damage which causes the high mortality rate.

Most frequent clinical findings in patients with Patau syndrome:

  • Cleft lip
  • Cranial malformations
  • Cardiac and renal malformations
  • Delayed growth
  • Profound intellectual deficit

Additional information – International Trisomy 13/18 Alliance – The portal for rare diseases and orphan drugs