what is patau syndrome

Patau syndrome, also known as Trisomy 13, is a rare but serious genetic disorder caused by having an additional copy of chromosome 13 in some or all of the bodys cells. Humans normally have 23 pairs of chromosomes, but a baby with Patau syndrome has three copies of chromosome 13 instead of two, which severely disrupts normal development. The extra genetic material causes severe intellectual disability and physical abnormalities in many parts of the body, including heart defects, brain or spinal cord abnormalities, very small or poorly developed eyes, extra fingers or toes, and weak muscle tone. Due to the presence of several life-threatening medical problems, many infants with Patau syndrome die within their first days or weeks of life, and only 5-10% of children with this condition live past their first year. Patau syndrome occurs in about 1 in 10,000-16,000 births, and the risk of having a baby with this condition increases with the mothers age. Most cases are not inherited and result from random formation of eggs and sperm in healthy parents.