Story
We are raising money for PKS UK, a charity which supports medical research into the very rare Pallister-Killian syndrome.
Pallister-Killian Mosaic Syndrome or PKS happens randomly. PKS is a chromosome abnormality when a tetrasomy of the short arm of chromosome 12 (12p) occurs for no known reason. PKS is a unique, diverse syndrome that raises a lot of questions about care, symptoms and conditions.
Individuals affected by PKS often have some or all of the following characteristics:
- Low muscle tone
- Hypopigmentation of the skin
- Cognitive and developmental delays
- Diaphragmatic hernias
- Seizures
- Speech delay or absence
- Hearing and/or sight impairment