Patau's Syndrome

Keywords

Patau's syndrome, cleft lip, chromosome 13, trisomy 13, brain dysfunction, abnormal eyes, small head, malformed, birthmarks.

Introduction

Patau's syndrome is a rare genetic disorder that is caused by having an extra copy of chromosome 13 in some or all of the body's cells. It is also known as Trisomy 13.

Features of Patau's Syndrome

Where each cell normally carries 23 pairs of chromosomes, a baby with Patau's syndrome has 3 copies of chromosome 13, instead of the usual 2. As a result of this, it can mean that the baby is not developed to full term during pregnancy, or can be stillborn.

Interesting fact: quite distressing to have this happen, but a baby that has Patau's syndrome is unlikely to live past their first birthday, due to complications with the genetic disorder.

Symptoms and Features

The following features can be attributed to Patau's syndrome:

• Brain dysfunction - the brain does not split into two sides
• Heart defects
• Cleft lip and palette
• Abnormally small eyes
• Small head size
• Facial features all malformed
• Raised or severely red birthmarks

Treatments

As most babies die of the syndrome before they reach any significant age, there is no treatment for the syndrome. A baby will receive pallative care as a result of the syndrome until they pass on. There are severe health problems associated with the syndrome. A family will be offered all the support they need if they find out their baby has the syndrome, with counselling and other forms of support.