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Help spread awareness about Pallister-Killian Syndrome (PKS)

Tuesday, November 14, 2017   (0 Comments)
Posted by: DCMS
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The Marion County Medical Society has requested that the Governor's office designate 12/4 Pallister-Killian Syndrome (PKS) Awareness Day. In an effort to spread awareness, MCMS is asking physicians statewide to share information about PKS. Below is some information provided by Dr. Peter Yung Kim and Dr. Edythe Park of MCMS. He can be reached at


Pallister–Killian Syndrome Awareness Day

Everyone wants everything to be perfect when they are expecting their first child.  You register for all the cute baby things, read up on all the parenting books, and create a Pinterest perfect nursery.  The last place you want to be is in a doctor’s office being told that after your level III ultrasound, they are not sure what is wrong with your child, but that they are not going to be normal.  That is where we found ourselves 7 years ago.  We got a phone call about 1 week after our daughter was born that she has Pallister-Killian Syndrome.  As both of us are physicians, we were asked if we had ever heard of it, which we had not.  Our initial instinct was to research everything there was to know about the condition but there was not much useful clinical information available.  We were told that she was one of only 300 known cases in the world with this diagnosis.  We were fortunate that our geneticist actually knew of another patient who had it and was able to connect us to other families affected by this syndrome.

Pallister-Killian Syndrome (PKS) is an extremely rare genetic disorder caused by the presence of isochromosome 12p, which is a version of chromosome 12 made up of two p arms.  It is present in a tissue limited mosaic state, in that some cells have the usual two copies of chromosome 12, while other cells have the isochromosome 12p. These cells thus have a total of 4 copies of chromosome 12p, which is why we recognize December 4th (12/4) as PKS Awareness Day.

Most infants with PKS are born with significant hypotonia, which can cause difficulty breathing, feeding, and the normal development of motor skills such as sitting, standing, and walking.  About 30 percent of affected individuals are ultimately able to walk without assistance.  Additional developmental delays result from intellectual disability, which can vary from mild to profound. Speech is often limited or absent in people with this condition. 

PKS is also characterized by distinctive facial features, hearing loss, temporal alopecia, pigmentary skin differences, vision impairment, seizures and may also include other birth defects such as congenital heart defects, skeletal abnormalities and diaphragmatic hernias. The most severe cases involve birth defects that are life-threatening in early infancy.

PKS is diagnosed by a physical examination and genetic testing. If this syndrome is suspected, diagnosis can sometimes be made via amniocentesis, microarray at birth, or skin biopsy in older children but even then there are a large number of false negatives. Thus it is very important to pursue further or repeat testing if a clinical diagnosis of PKS is suspected.

We are hoping to raise awareness of PKS to aid in early diagnosis, which is key in helping children succeed as much as possible through early aggressive therapies, getting appropriate medical screening for associated anomalies, as well as connecting affected families for support.  There are an estimated 300 cases worldwide but some researchers believe that could be as high as 2000 in the United States alone. We aim to educate our community of medical professionals to consider this diagnosis and pursue further testing if necessary.  We also hope to raise funds to support the ongoing research for a cure. Currently, research is being conducted at the  Children’s Hospital of Philadelphia to eradicate or suppress the isochromosome responsible for this syndrome.  Additional information can be obtained through the national nonprofit support group PKS KIDS at

Peter Yung Kim, MD and Edythe Park, MD