Patau syndrome
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)[1][2].
There is no treatment for Patau's syndrome.
Symptoms
These can vary greatly, however almost all suffer from severe mental deficiency.
Physical:
- Polydactyly
- 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%)
- Seizures
Life expectancy
Patau syndrome may affect the development of the baby in the womb and can result in miscarriage / stillbirth[3].
45% of those born with Patau Syndrome die with one month and 70% within the first 6[4], while 90% die within their first year. The median survival age for the patient is about 2.5 days in the United States[5].
About 5-10% of babies with partial or mosaic Patau Syndrome can live for over a year.