Pallister-Killian Syndrome (PKS), also known as Tetrasomy 12p, is an extremely rare genetic disorder characterized by the presence of four copies of the short arm of chromosome 12 in some cells of the body. The prevalence of PKS is difficult to determine accurately due to its rarity and the variability in symptoms among affected individuals.
PKS is estimated to occur in approximately 1 in 25,000 to 50,000 live births. However, it is important to note that this prevalence may be underestimated as many cases go undiagnosed or misdiagnosed. The syndrome affects both males and females, with no known ethnic or geographical predisposition.
PKS is typically diagnosed through genetic testing, which analyzes the chromosomes to identify the presence of the extra chromosome 12p. The syndrome is associated with a wide range of symptoms, including intellectual disability, developmental delays, distinctive facial features, hearing loss, seizures, and hypotonia.
Due to the rarity of PKS, there is limited information available regarding long-term outcomes and life expectancy. However, early intervention and comprehensive medical management can help improve the quality of life for individuals with PKS and address specific symptoms and challenges they may face.