What is Trisomy 13 Syndrome / Patau Syndrome

Trisomy 13 Syndrome, also known as Patau Syndrome, is a rare genetic disorder caused by the presence of an extra copy of chromosome 13 in the cells of an individual. This condition occurs randomly and is not inherited from parents. Trisomy 13 Syndrome affects multiple organ systems and leads to various physical and intellectual disabilities.

Individuals with Trisomy 13 Syndrome may experience a range of symptoms, including facial abnormalities, such as cleft lip or palate, small eyes, and a sloping forehead. They may also have heart defects, brain abnormalities, and other organ malformations. Additionally, affected individuals often have severe intellectual disabilities and developmental delays.

Trisomy 13 Syndrome is associated with a high mortality rate, and many affected infants do not survive beyond the first year of life. However, with appropriate medical care and support, some individuals with this condition can live into adulthood.

Due to the complex nature of Trisomy 13 Syndrome, a multidisciplinary approach involving various healthcare professionals is necessary to manage the medical, developmental, and educational needs of individuals with this condition.