About Pallister Killian Mosaic Syndrome

What is Pallister Killian Mosaic Syndrome?

Pallister Killian Mosaic Syndrome (also known as PKS) is a rare genetic disorder caused by a chromosomal abnormality. It is characterized by intellectual disability, seizures, and physical abnormalities such as a wide-set eyes, low-set ears, and a small head. Other features may include heart defects, kidney problems, and vision and hearing problems.

What are the symptoms of Pallister Killian Mosaic Syndrome?

The symptoms of Pallister Killian Mosaic Syndrome vary from person to person, but can include:

-Developmental delays

-Intellectual disability

-Seizures

-Feeding difficulties

-Growth delays

-Muscle weakness

-Abnormal facial features

-Heart defects

-Kidney abnormalities

-Hearing loss

-Vision problems

-Skeletal abnormalities

-Skin abnormalities

-Behavioral problems

What are the causes of Pallister Killian Mosaic Syndrome?

Pallister Killian Mosaic Syndrome is a rare genetic disorder caused by a chromosomal abnormality. It is caused by an extra copy of chromosome 12, which is present in some or all of the cells of the body. This extra chromosome is called an isochromosome 12p. The exact cause of this chromosomal abnormality is unknown, but it is believed to be due to a random error during the formation of the egg or sperm cell.

What are the treatments for Pallister Killian Mosaic Syndrome?

There is no cure for Pallister Killian Mosaic Syndrome, but there are treatments available to help manage the symptoms. These treatments may include physical therapy, occupational therapy, speech therapy, and medications to help with seizures, muscle spasms, and other medical issues. Additionally, surgery may be recommended to correct certain physical deformities.

What are the risk factors for Pallister Killian Mosaic Syndrome?

The exact cause of Pallister Killian Mosaic Syndrome is unknown, but it is believed to be caused by a random genetic mutation. There are no known risk factors for this condition.

Is there a cure/medications for Pallister Killian Mosaic Syndrome?

At this time, there is no cure for Pallister Killian Mosaic Syndrome. However, there are medications and therapies that can help manage the symptoms of the condition. These include physical therapy, occupational therapy, speech therapy, medications to help with muscle spasms, and medications to help with seizures.