Patau syndrome: Difference between revisions
mNo edit summary |
No edit summary |
||
| Line 12: | Line 12: | ||
*Holoprosencephaly (forebrain in the embryo does not divide into two hemispheres) | *Holoprosencephaly (forebrain in the embryo does not divide into two hemispheres) | ||
*Microcephaly (small head size) | *Microcephaly (small head size) | ||
*Cutis aplasia (skin missing from scalp) | |||
*Ear malformations (can lead to deafness) | |||
*Microphthalmia (small eyes) | *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%) | *Congenital heart defect (affects around 80%) | ||
*Seizures | *Seizures | ||
Revision as of 17:57, 4 December 2017
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].
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 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 patient is about 2.5 days in the United States[5].
About 5-10% of babies with partial or mosaic Patau Syndome can live for over a year.