“Pallister-Killian syndrome (PKS) is an extremely rare genetic disorder that is present at birth. The prevalence 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.

The signs and symptoms of Pallister-Killian syndrome vary from child to child and range in severity. Typically, children with this diagnosis have extremely weak muscle tone (hypotonia), intellectual impairment and developmental delays, distinct facial features, skin pigmentation differences, seizures and other birth defects.” Read More

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