What is Patau Syndrome?

Patau’s Syndrome is also known as Trisomy 13. It is a chromosome-based, rare genetic disorder in which
the patient has an extra copy of chromosome 13 in some or all of the cells in the body. Normally the
baby should have two copies of the chromosome but in this case, there are three. The presence of the
extra chromosome causes abnormal development of the fetus, often resulting in a miscarriage or
stillbirth. It is a chromosomal condition associated with severe intellectual disability and physical
abnormalities in many parts of the body.

https://www.news-medical.net/health/What-is-Patau-Syndrome.aspx

Types of Patau Syndrome

Full Trisomy 13: The existence of a third copy of chromosome 13 in all of the cells. About 95% of cases
of Trisomy 13 are this type.

Mosaic Trisomy 13: The existence of a third copy of chromosome 13 in some of the cells. About 5% of
cases of Trisomy 13 are this type.

Partial Trisomy 13: The existence of a part of a third copy of chromosome 13 in the cells. Less than 1%
of cases of Trisomy 13 are this type.

https://www.ssmhealth.com/cardinal-glennon/fetal-care-institute/genetic-syndromes/trisomy-13-
patau-syndrome

Causes of Patau Syndrome

Most cases of trisomy 13 result from having three copies of chromosome 13 in each cell in the body
instead of the usual two copies. The extra genetic material disrupts the normal course of development,
causing the characteristic features of trisomy 13.

Trisomy 13 can also occur when part of chromosome 13 becomes attached (translocated) to another
chromosome during the formation of reproductive cells (eggs and sperm) or very early in fetal
development. Affected people have two normal copies of chromosome 13, plus an extra copy of
chromosome 13 attached to another chromosome. In rare cases, only part of chromosome 13 is present
in three copies. The physical signs and symptoms in these cases may be different than those found in full
trisomy 13.
https://medlineplus.gov/genetics/condition/trisomy-13/?
fbclid=IwAR0bCrOYXpbuPDL5cvBapTiLs1AI1kpXxQ1X7MXsWRK4tXN7JeahxDN8MII#causes

What age group it affects?

Patau syndrome usually affect the infant or the new born baby. Babies with Patau's syndrome grow
slowly in the womb and have a low birth weight, along with a number of other serious medical
problems. Patau's syndrome affects about 1 in every 5,000 births. The risk of having a baby with the
syndrome increases with the mother's age. More than 9 out of 10 children born with Patau's syndrome
die during the first year. About 1 in 10 babies with less severe forms of the syndrome, such as partial or
mosaic trisomy 13, live for more than a year.

https://www.nhs.uk/conditions/pataus-syndrome/

Patau Syndrome Symptoms

These are the Patau syndromes signs and symptoms:

 cleft lip and palate

 an abnormally small eye or eyes (microphthalmia)
 absence of 1 or both eyes (anophthalmia)
 reduced distance between the eyes (hypotelorism)
 problems with the development of the nasal passages

Other abnormalities of the face and head include:

 smaller than normal head size (microcephaly)

 skin missing from the scalp (cutis aplasia)
 ear malformations and deafness
 raised, red birthmarks (capillary haemangiomas)

Patau's syndrome can also cause other problems, such as:

 an abdominal wall defect where the abdomen does not develop fully in the womb, resulting in
the intestines being outside the body, covered only by a membrane – this is known as an
exomphalos or omphalocoele
 abnormal cysts in the kidneys
 an abnormally small penis in boys
 an enlarged clitoris in girls

https://www.nhs.uk/conditions/pataus-syndrome/?
fbclid=IwAR3NDKpEECzrazwnIx3cwd7FJ9Ok7cP6zJSkjry-5JxNl_6659l9-5Us5q8
What Are the Treatments?

There is no cure for trisomy 13, and treatments focus on your baby’s symptoms. These can include
surgery and therapy. Although, depending on the severity of your baby’s issues, some doctors may
choose to wait and consider any measures based on the chances of your baby’s survival.

Trisomy 13 isn’t always fatal. But doctors can’t predict how long a baby might live if they don’t have any
immediate life-threatening problems. However, babies born with trisomy 13 rarely live into their teens.

https://rarediseases.info.nih.gov/diseases/7341/trisomy-13?fbclid=IwAR3b2KVj_R5H3-UFUToYN19aq-
V7jXJyPKJb3w1ScYVawRhSkqk-fpSAvo0