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Patau syndrome

 

What is Patau syndrome?
Patau syndrome is a serious rare genetic disorder caused by having an additional copy of chromosome 13 in some or all of the body’s cells. It’s also called Trisomy 13. Patau syndrome affects about 1 in every 5,000 births. The risk of having a baby with the syndrome increases with the mother’s age.

Signs and symptoms
Baby’s growth in the womb is often restricted, resulting in a low birth weight, and 8 out of 10 will be born with severe heart defects. The brain often does not divide into 2 halves, also known as holoprosencephaly. When this happens, it can affect facial features and cause defects such abnormally small or absence of eye(s), smaller head size, ear malformations, abdominal wall defects, small cysts in kidneys and more.

Children with Patau syndrome
Babies with Patau syndrome grow slowly in the womb and have a low birth weight, along with a number of other serious medical problems. More than 9 out of 10 children born with Patau syndrome die during the first year.

Diagnosis of Patau syndrome
A screening test for Patau syndrome, as well as Down’s syndrome (Trisomy 21) and Edwards syndrome (Trisomy 18) can be done from 10 to 14 weeks of pregnancy.

Sources and useful links: 
NHS UK 
Medline Plus 
GARD – Genetic and Rare Diseases Information Center

 

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