What is it. Patau's syndrome is the presence of various dysmorphic features in a child a set of three chromosomes 13. This is called trisomy, in this case, trisomy 13.
Patau = trisomy 13. Patau syndrome = trisomy 13. Patients have extra copy of chromosome 13. It presents at birth and includes intellectual disability, often heart defects, brain abnormalities, very small or poorly developed eyes, extra fingers or toes, cleft lip and/or cleft palate), and weak muscle tone. Many infants with trisomy 13 die within their first days or weeks of life. About 5-10% live past 1st year of life.