What is Pallister-Killian Syndrome / Tetrasomy 12p

Pallister-Killian Syndrome, also known as Tetrasomy 12p, is a rare genetic disorder caused by the presence of extra genetic material on the short arm of chromosome 12. This condition is characterized by a wide range of physical and developmental abnormalities.

Individuals with Pallister-Killian Syndrome may exhibit distinct facial features such as a high forehead, widely spaced eyes, a flat nasal bridge, and a small chin. They may also experience intellectual disability, delayed development, and seizures. Additionally, some affected individuals may have hearing loss, heart defects, skeletal abnormalities, and vision problems.

The diagnosis of Pallister-Killian Syndrome is typically confirmed through genetic testing, which detects the presence of extra genetic material on chromosome 12. However, it's important to note that not all cells in the body may contain the extra genetic material, making diagnosis challenging.

Management of Pallister-Killian Syndrome involves addressing the specific symptoms and providing supportive care. Early intervention programs, physical therapy, speech therapy, and educational support can help individuals with this condition reach their full potential.

Pallister-Killian Syndrome is a complex genetic disorder characterized by physical and developmental abnormalities. While it poses significant challenges, individuals with this syndrome can lead fulfilling lives with appropriate care and support.