Pallister-Killian Syndrome (PKS)

What is Pallister-Killian syndrome (PKS)?
Pallister-Killian syndrome (PKS) is a multi-system disorder that is characterized by extremely weak muscle tone (hypotonia) in infancy and early childhood, intellectual disability, distinctive facial features, sparse hair, areas of unusual skin coloring (pigmentation), and other birth defects. The signs and symptoms of PKS can vary, although most documented cases of people with the syndrome have severe to profound intellectual disability and other serious health problems. More information about PKS may be found on the NIH’s website: https://rarediseases.info.nih.gov/diseases/8421 

What is the prevalence of Pallister-Killian syndrome (PKS)?
The prevalence of Pallister-Killian syndrome (PKS) has been estimated to be 1 in 20,000. However, it is likely that PKS is underdiagnosed due to the difficulty of making a cytogenetic diagnosis from a blood test. 

How is Pallister-Killian syndrome (PKS) diagnosed?
PKS may be diagnosed by a chromosome study of the blood, a chromosome study of the skin or by fluorescent in situ hybridization (FISH). More information on diagnosis may be found on the Children’s Hospital of Philadelphia’s website: https://www.chop.edu/conditions-diseases. 

Is there any specific gene/pathway in Pallister-Killian syndrome (PKS) that has been identified?
Pallister-Killian syndrome is a chromosomal disorder caused by having an extra chromosome. It is not inherited and occurs spontaneously in a child by chance. All cases recorded to date have been sporadic. 

How is Pallister-Killian syndrome (PKS) treated?
Currently, there is no cure for Pallister-Killian syndrome. Treatments offered to children with the condition can help manage each child’s specific symptoms and developmental needs. The goal of all these options is to help children with PKS live as normal a life as possible and maximize their potential. 

Are there any clinical trials underway for Pallister-Killian syndrome (PKS)?
The National Institutes of Health (NIH) has not completed any clinical trials for Pallister-Killian syndrome (PKS). Currently, there are no clinical trials underway for the condition. More information on future studies and patient recruitment can be found here: https://clinicaltrials.gov/ct2/results?cond=pallister&term=&cntry=&state=&city=&dist= 

How can RareShare be helpful to Pallister-Killian syndrome (PKS) patients and families?
The Pallister-Killian syndrome (PKS) Rareshare community has 4 members. There are currently 0 active discussions underway. However, new discussions can help to connect patients, health workers, caregivers and families interested in PKS and provide them continual access to community resources.