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Pallister-Killian Syndrome

What is Pallister-Killian Syndrome?

Pallister-Killian Syndrome is a rare genetic disorder occuring due to tetrasomy of the twelfth chromosome.

 

Pallister-Killian Syndrome is a rare genetic disorder occuring due to tetrasomy of the twelfth chromosome.
Acknowledgement of Pallister-Killian Syndrome has not been added yet.
Prevalence Information of Pallister-Killian Syndrome has not been added yet.
Synonyms for Pallister-Killian Syndrome has not been added yet.
There is no known cause of PKS.
Symptoms _may_ include but are not limited to: developmental delays low muscle tone additional fingers or toes diaphragmatic hernia seizures hypopigmentation sparse hair pattern broad nasal bridge respitory problems hearing impairment vision impairment
Diagnosis of Pallister-Killian Syndrome has not been added yet.
Diagnostic tests of Pallister-Killian Syndrome has not been added yet
Each symptom/affliction should be treated individually. Occupational and Physical therapy, hearing aids, glasses, medications, etc.
There is no known prognosis, though it's likely people affected by PKS may have a shortened lifespan. There are adults with PKS who are in their 30's.
Tips or Suggestions of Pallister-Killian Syndrome has not been added yet.
References of Pallister-Killian Syndrome has not been added yet.
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PKS Kids

PKS KidsTM is a 501(c)3 non-profit organization aimed at helping all people involved with Pallister-Killian Syndrome. Caregivers, family members, friends, teachers and medical professionals can all find help and support here.

 

 

Our Mission Statement

 

To promote research, provide education, and raise awareness within the medical community in order to ensure early diagnoses of children with Pallister-Killian Syndrome (PKS). To provide resources and support to families, therapists and caregivers of children with PKS

 

03/20/2017

Clinical Trials


Cords registry

CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.

Enrolling is easy.

  1. Complete the screening form.
  2. Review the informed consent.
  3. Answer the permission and data sharing questions.

After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.

Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.

Visit sanfordresearch.org/CoRDS to enroll.

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