Patau syndrome: Difference between revisions
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Patau Syndrome /ˈpætaʊ/ | Patau Syndrome /ˈpætaʊ/ is also known as [[Trisomy 13|Trisomy 13]] as it is caused by an extra [[Chromosome 13|chromosome 13]]. This is similar to the more well-known [[Down's syndrome|Down's syndrome]], except that the [[Trisomy|trisomy]] occurs on [[chromosome 21|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)<ref>http://www.lucinafoundation.org/birthdefects-trisomy13.html</ref><ref>http://www.trisomy.org/resources/soft-publications/trisomy-13-facts/</ref>. | ||
= | There is no treatment for Patau's syndrome. | ||
<span style="background-color: initial; font-size: 17.5296px; font-weight: bold;">Symptoms</span> | |||
These can vary greatly, however almost all suffer from severe mental deficiency. | These can vary greatly, however almost all suffer from severe mental deficiency. | ||
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*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) | *Cutis aplasia (skin missing from scalp) | ||
*Ear malformations (can lead to deafness) | *Ear malformations (can lead to deafness) | ||
*Microphthalmia (small eyes) | *Microphthalmia (small eyes) | ||
*Anophthalmia (absence of one or both eyes) | *Anophthalmia (absence of one or both eyes) | ||
*Hypotelorism (smaller distance between eyes) | *Hypotelorism (smaller distance between eyes) | ||
*Capillary haemangiomas (raised, red birthmarks) | *Capillary haemangiomas (raised, red birthmarks) | ||
*Congenital heart defect (affects around 80%) | *Congenital heart defect (affects around 80%) | ||
*Seizures | *Seizures | ||
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=== Life expectancy === | === Life expectancy === | ||
Patau syndrome may affect the development of the baby in the womb and can result miscarriage / stillbirth<ref>https://www.nhs.uk/conditions/pataus-syndrome/</ref>. | Patau syndrome may affect the development of the baby in the womb and can result in miscarriage / stillbirth<ref>https://www.nhs.uk/conditions/pataus-syndrome/</ref>. | ||
45% of those born with Patau Syndrome die with one month and 70% within the first 6 <ref>http://emedicine.medscape.com/article/947706-overview</ref>, while 90% die within their first year. | 45% of those born with Patau Syndrome die with one month and 70% within the first 6<ref>http://emedicine.medscape.com/article/947706-overview</ref>, while 90% die within their first year. The median survival age for the patient is about 2.5 days in the United States<ref>http://syndrome.org/patau-syndrome/</ref>. | ||
About 5-10% of babies with partial or mosaic Patau | About 5-10% of babies with partial or mosaic Patau Syndrome can live for over a year. | ||
=== References | === References === | ||
<references / | <references /> | ||
Latest revision as of 20:33, 11 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].
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.