Patau Syndrome: Causes, Diagnosis, Symptoms and Treatment

Patau syndrome is caused due to the abnormality in the chromosome number 13 i.e. also known as trisomy of 13 or trisomy D. In this disease few or all cells of the body have extra genetic material. Trisomy of the 13th chromosome is caused due to the nondisjunction of the chromosome during the process of meiosis. Genetic material which is extra in the normal cell causes problems in the normal development. It can result in the multiple organ defects.patau-disease

The risk of having this syndrome in offsprings increases with maternal age at pregnancy. Patau syndrome has a ratio of about 1 in 10,000 and in live births, it is somewhere 1 in 21,700. Within the 1st year of life, more than 80% of infants having Patau syndrome die.

History of Patau syndrome
It was 1st seen by Thomas Bartholin in 1657. However, the main genetic and the chromosomal parts which are related to this syndrome are discovered by Dr. Klaus Patau in 1960. After this discovery, it is known by the name “Patau Syndrome”.


Diagnosis of Patau syndrome

  • Abnormality in the internal organs is seen with the help of X-rays or ultrasounds.
  • Fused cerebral hemispheres can be revealed by the MRI or CT scan.
  • Study of chromosomes shows trisomy.
  • Screening of serum from the mother is not useful in this syndrome.
  • Only screening test for this is ultrasonography- holoprosencephaly.
  • Pathognomonic features are easily visible in the fetus.

What are the symptoms of Patau syndrome? 
Symptoms that we can easily recognize are-

  • Head size is small as that of normal
  • No eyes and if present then they will be small
  • Cleft clip is seen in 60% of children
  • Extra number of toes and fingers
  • Heart defect is seen in 80% of the children
  • No eyebrows
  • Malformed ears or dysplastic type of ears
  • Abnormal testes or they are undescended

Causes of Patau Syndrome 

  • It is caused due to the trisomy of chromosome 13.
  • The other reason of this syndrome is the attachment of chromosome 13 to another chromosome.
  • In most of the cases, it is not inherited but is due to the random events seen during the production of reproductive eggs or sperms.
  • Patau syndrome which is caused due to translocation can be inherited.

Treatments of Patau Syndrome 
As such, there is no such treatment for Patau syndrome. But there are some measures which are used to sustain life for only a bit.

  • For surviving, surgery is required to fix some defects which can help in living as much as possible.
  • Surgeries are important for repairing heart and cleft defects.
  • Speech, occupational and physical therapies are helpful to reach their full potential of development.


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