Pallister-Killian Syndrome is a rare chromosomal syndrome, when a tetrasomy of the short arm of chromosome 12 (12p) occurs for no known reason. There are about 400-500 known cases worldwide, although there are concerns there may be many more undiagnosed cases.

Few of its key characteristics are:

• Low muscle tone
• Visual/Hearing Impairment
• Little or no speech development
• Cognitive and developmental delays
• Diaphragmatic hernias
• High, arched palate

Until now, there has been very little information and support available to families of those affected and most medical professionals have never heard of PKS.

PKSFA has been established to provide help and support to individuals diagnosed with PKS and their families as well as raising awareness, providing information to the medical community and conduct research into many of its little known characteristics.