PKS Kids - Pallister Killian Syndrome

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PKS Kids - Pallister Killian Syndrome

PKS is a rare tetrasomy of 12p. Visit www.pkskids.com for more information. They feel there may be as many as 2,000 cases in the United States alone.

What Is PKS Pallister-Killian Mosaic Syndrome or PKS is a chromosome abnormality when a tetrasomy of the short arm of chromosome 12 (12p) occurs for no known reason. PKS has the following characteristics:
•low muscle tone
•facial features that are common to the syndrome-high forehead, broad nasal bridge, wide space between the eyes
•sparse scalp hair at birth
•high, arched palate
•hypopigmentation
•extra ni***es
•cognitive and developmental delays. Althought most PKS children have these delays, many children are only mildly handicapped.
•diaphragmatic hernias
PKS happens randomly and for no known reason. It is thought that there are under 200 diagnosed cases of PKS in the world, however doctors at Children's Hospital in Philadelphia believe that the incidence of PKS is much higher! So why aren't these numbers reflected? It is likely that there may be this many cases, but they are going undiagnosed. A main cause for these undiagnosed cases is the method of testing. PKS can be diagnosed in utero via amniocentesis, although occasionally, even this has produced a false negative. After birth, diagnosis is best made by a buccal smear (although a skin biopsy can be as accurate). The blood cells in the body quickly regenerate and the mosaic cells leave the bloodstream after just a few days, making a diagnosis via bloodwork inconclusive or falsely negative. Ask for a buccal smear if you have any reason to believe your child may have the traits of a syndrome.

14/10/2025

We've been fortunate to add two new board members to the PKS board of directors (Serena Doyen Puckitt and Maddy Peters) and are resurrecting the monthly newsletter! If you have a minute to complete this google form, we'd appreciate it.

ONE PER FAMILY, please!

If you would like your family to be featured in one of our monthly newsletters please fill out the form below! Thank you, Maddy Peters

09/10/2025

A great opportunity from the Perkins School for the Blind/CVI Center

“Recognizing CVI in the Rare Disease Community”
Tuesday, October 21st
12:00 PM EST
Registration Link: https://perkins-org.zoom.us/webinar/register/WN_uWoSdgpsRDWlhJQeEX5CvQ #/registration

Cerebral/Cortical Visual Impairment (CVI) is the leading cause of childhood visual impairment. Despite being the leading cause of childhood blindness and low vision, CVI remains poorly understood and underdiagnosed.

In this webinar, advocates and parents Lacey Smith and Ali Mahady will share their knowledge and lived experiences raising children with a rare disease and CVI. Together, they’ll explore:

What is CVI?

How to observe signs of CVI in your loved one

Practical strategies for advocacy and support

Join Lacey Smith and Ali Mahady for an insightful discussion on Cerebral/Cortical Visual Impairment (CVI) and its impact on individuals within the rare disease community. They’ll explore key topics including what is CVI, observing CVI in your loved one, and strategies for advocating. Lacey and Ali...

13/06/2025

Big news!

We’re excited to share that BILLY Footwear now accepts Health Savings Account (HSA) and Flexible Spending Account (FSA) payments on all eligible orders — including every pair of our shoes!

If you have an HSA or FSA card, you can use it at checkout to get the style and comfort you deserve while making the most of your benefits.

Why this matters:

Our shoes are designed to support your health and comfort every step of the way — and now it’s easier than ever to invest in your foot health using your HSA or FSA funds.

Use this link and PKS Kids receives a donation!

BILLY Footwear creates shoes with zippers designed to be fashionable and functional, revolutionizing how shoes are put on and taken off. Incorporating universal design, BILLY shoes embrace inclusion. No more velcro. No more stuffing your feet into shoes. Step in unobstructed with our drop-in solutio...

21/05/2025

16/05/2025

If you are in the Chicago area, I highly recommend checking out Abilities Expo! Check out the website for other expos around the country.

https://www.abilities.com/chicago

Abilities Expo Chicago: Where else can you find everything you need for people with disabilities?

14/05/2025

There is still time to sign up to attend!

31/03/2025

For all our UK and European families!

https://facebook.com/events/s/pks-uk-summer-conference/1594483964525494/

09/01/2025

We're having a Texas get-together at Morgan's Wonderland. Meet at the Main Street Pavilion at 10:00 am on March 15th for a meet and greet.
EVERYONE welcome! ❤

If you have questions, please message Gretchen Peters

03/12/2024

Ahead of and PKS Awareness Day, we are hosting this fundraiser for PKS Kids. Visit https://www.pkskids.net/faces to meet them, learn more about them, and fall in love. Then come back and make a donation of $12.04 in honor of Pallister-Killian Syndrome Awareness Day on 12-04!

https://givebutter.com/XppwHu

29/11/2024

BILLY SHOES SALE!

Our Black-Friday-Cyber-Monday sale runs now through Monday, December 2nd. Save 25% off sitewide with code BFCM25. PLUS Use our unique link and save an ADDITIONAL 10% and PKS Kids will benefit!!!

18/11/2024

Jennifer is a PKS mom and an amazing writer.

The idea for Caregiver’s Manifesto started with wanting to capture a number of the most surprising, aching, and profound insights I’ve come to know

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http://www.pkskids.com/

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