Patau Syndrome

Patau syndrome is a genetic disease that occurs due to a mutation in chromosome 13. This leads to the formation of various abnormalities in the body, such as abnormalities in the development of the brain, heart, eyes, ears and other organs.

How is it happening? Patau syndrome occurs in 1 in 6000 children

PATAU SYNDROME - syndromes characterized by a set of stigmata of skeletal dysgenesis: large head, protruding forehead, protruding upper jaw, short neck, small nose, small lower jaw, small earlobes, small mouth with labio-palatal shelf, most often cleft lip (then with enlargement of the head, the nose becomes wider, a fold forms between the upper lip and the nose), low-set or auricles, multiple dental abnormalities, overdevelopment of the genitals, microcephaly, hiatal hernia. The terminal stage is characterized by dementia, sexual dysfunction, significant delay in physical development, epilepsy, various heart defects, renal failure, etc. Most often, the syndrome is discovered after 40-50 years of age during a random examination. Based on their appearance, experts from the 19th century, including scientists from the University of London, called them “Mongols” or “Chinese”.