Patau Syndrome

One baby in 16,000 can be born with a chromosomal disorder known as Patau Syndrome. They may have physical symptoms like a cleft palate or cleft lip, extra fingers or toes and other facial characteristics and serious complications such as heart defects and central nervous system problems.

What Is Patau Syndrome?

image001Patau syndrome is caused by an extra chromosome that is present in some or all of the body’s cells. Children with Patau Syndrome usually have heart defects, spinal cord and brain abnormalities, extra fingers or toes, weak muscle tone and eyes that are poorly developed. This disorder is so severe that few babies survive more than a few weeks and only 5 – 10% live longer than a year.

What Are the Symptoms of Patau Syndrome?

Symptoms

The severity of this syndrome causes many babies to abort spontaneously or to be stillborn. Symptoms may include:

  • Low birth weight and restriction of growth while in utero
  • Severe congenital heart defects
  • If the brain does not divide into two halves, cleft palate and lip, malformation of the nose, and hypotelorism (little distance between eyes) can be present.
  • Central nervous system and brain abnormalities – severe learning disabilities, difficulty in controlling breathing and neural tube defects
  • Craniofacial abnormalities – scalp defects, ear malformations and deafness
  • Abnormalities of the feet and hands – rocker-bottom feet or extra toes or fingers
  • Problems with the gastrointestinal system
  • Malformations of the urogenital

Complications

The complications of Patau Syndrome usually are present at birth and congenital heart disease is present in most babies with the disorder.

  • Problems with vision
  • Deafness
  • Heart failure
  • Difficulty with breathing
  • Feeding issues
  • Seizures

What Causes Patau Syndrome?

Causes

When extra DNA from chromosome 13 is in the body’s cells, Patau Syndrome develops.

  • When an extra part of chromosome 13 appears in the body’s cells, it is called Partial trisomy.
  • The appearance of an extra chromosome 13 in all of the body’s cells is called trisomy 13.
  • Trisomy 13 mosaicism occurs when only some of the body’s cells has an extra chromosome 13.

Risk Factors

  • The risk of having a child with Patau Syndrome rises when the mother is older, but the risk is not as high as the risk for Down’s syndrome or Edwards’ syndrome.
  • If someone has had a child with Patau Syndrome, or if a close family member has, the risk of having a child affected with this disorder is higher.

How Common Is Patau Syndrome?

About 1 in 16,000 babies is born with Patau Syndrome. The risk of having a baby with this disorder gets higher as a woman’s age increases.

Can Patau Syndrome be Inherited?

Most conditions of Patau Syndrome cannot be inherited. During the formation of the sperm or egg, a problem with cell division can cause an extra chromosome 13 in the cells. This is not the fault of the parent, but rather a random occurrence. Another type of Patau Syndrome can be inherited. Translocation trisomy 13 can happen when an unaffected parent carries a rearrangement of genetic material from chromosome 13 and another chromosome and passes this material on to the child.

Can Patau Syndrome Be Cured?

Patau Syndrome cannot be cured. The physical problems that children are both with can be treated with a variety of therapies. These therapies, including speech, occupational, and physical, are designed to help children reach their highest developmental potential. Surgery is also a possibility to correct heart defects, cleft palate or a cleft lip. Because of heart defects or neurological issues, it is difficult for many babies to survive the first few weeks of life.

 
 
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