Patau Syndrome /ˈpætaʊ/ is also known as Trisomy 13 as it is caused by an extra chromosome 13. This is similar to the more well-known Down's syndrome, except that the trisomy occurs on chromosome 21. Patau is the least common non-lethal trisomies, affecting 1 in 10,000 live births. Out of this 80% will have a full trisomy, with the remainder having partial trisomy (due to translocation or mosaicism).
There is no treatment for Patau's syndrome.
These can vary greatly, however almost all suffer from severe mental deficiency.
- Rocker-bottom feet
- Cleft Palate (this occurs in about 60% of those with Patau Syndrome)
- Holoprosencephaly (forebrain in the embryo does not divide into two hemispheres)
- Microcephaly (small head size)
- Cutis aplasia (skin missing from scalp)
- Ear malformations (can lead to deafness)
- Microphthalmia (small eyes)
- Anophthalmia (absence of one or both eyes)
- Hypotelorism (smaller distance between eyes)
- Capillary haemangiomas (raised, red birthmarks)
- Congenital heart defect (affects around 80%)
Patau syndrome may affect the development of the baby in the womb and can result in miscarriage / stillbirth.
45% of those born with Patau Syndrome die with one month and 70% within the first 6, while 90% die within their first year. The median survival age for the patient is about 2.5 days in the United States.
About 5-10% of babies with partial or mosaic Patau Syndrome can live for over a year.