This is a rare, recessive inherited condition, that usually causes death before ten years of age. Thought to be associated with the first chromosome, this syndrome is named after the twentieth century physicians A. Chediak and O. Higashi.

Symptoms include pseudoalbinism, enlargement of the liver and pancreas, as well as eye abnormalities. Death is usually caused by infection (often by the Epstein-Barr virus ), neurological degeneration or lymphomas. Those sufferers that survive to adulthood suffer from many neural problems, including difficulty in balancing.