Patausyndroom

Patausyndroom, also known as Trisomie 13, is a genetic disorder caused by the presence of an extra copy of chromosome 13. Normally, individuals have two copies of each chromosome, but in Patausyndroom, there are three. This extra genetic material disrupts the normal course of development, leading to a wide range of physical and intellectual disabilities.

The severity and specific manifestations of Patausyndroom can vary significantly among affected individuals. Common characteristics include severe intellectual disability, distinctive facial features such as a small head (microcephaly), a sloping forehead, and a cleft lip and/or palate. Malformations of the brain and spinal cord are also frequent. Organ development can be affected, with heart defects, kidney problems, and abnormalities in the digestive system being common. Extra fingers or toes (polydactyly) or fused fingers and toes (syndactyly) can also occur.

The prognosis for Patausyndroom is generally poor. Many affected infants are stillborn or die within the first few days or weeks of life. Survival beyond the first year is rare, and those who do survive often have profound medical needs and severe developmental delays. The diagnosis is typically made through prenatal testing, such as amniocentesis or chorionic villus sampling, or after birth through genetic testing of blood. There is no cure for Patausyndroom, and treatment focuses on managing symptoms and providing supportive care to improve the quality of life for the child and their family.